Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease

¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

Find articles by Mangas-Sanjuan, V. in: PubMed | Google Scholar

¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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¹Complex Chronic Children and Palliative Care Unit, Department of Pediatrics, Hospital Regional Universitario de Málaga, Málaga, Spain

²Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Scie, Institut de Recerca Sant Joan de Déu, Barcelona, Barcelona, Spain

³Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain

⁴Department of Pharmacy, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

⁵Centro de Atención Temprana Dr. Miguel de Linares Pezzi, Dulce Nombre de Maria Psychopedagogic Institute, Málaga, Spain

⁶Department of Pharmacy, Complejo Asistencial Universitario de León, León, Spain

⁷Department of Biochemistry & Biophysics, Texas A&M University, College Station, United States of America

⁸Department of Genetics, The Kennedy Centre and Copenhagen University Hospital, Rigshospital, Copenhagen, Denmark

⁹Institute for Child Health, University College London, London, United Kingdom

¹⁰Department of Pharmacy and Pharmaceutical Technology and Parasitology, University of Valencia, Valencia, Spain

¹¹Department of Chemistry, Faculty of Sciences, Universitat Autònoma de Barcelona, Cerdanyola de Vallès, Barcelona, Spain

¹²Menkes International Association, Málaga, Spain

¹³Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, United States of America

¹⁴Neuropsychology Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁵Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁶Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁷Confocal Microscopy and Cellular Imaging Unit, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁸Department of Pediatric Nephrology, Hospital Sant Joan de Déu, Barcelona, Barcelona, Spain

¹⁹Departments of Ophthalmology and Biochemistry, University of Missouri, Columbia, United States of America

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