[CITATION][C] A new syndrome: Familial growth retardation, renal aminoaciduria and cor pulmonale: II. Investigation of renal function, amino acid metabolism and …
LE Rosenberg, PS Mueller, DM Watkin - The American Journal of Medicine, 1961 - Elsevier
IN the preceding publication from this laboratory [I], a previously undescribed familial
syndrome characterized by dwarfism, hypoplastic somatic musculature, aminoaciduria and
car pulmonale secondary to alveolar hypoventilation was described. Detailed case reports
of the afflicted members of the family were presented, as were the biochemical abnormalities
exhibited by the ten year old white male propositus of the study. In this report we have
considered in greater detail the metabolic abnormalities present in this disorder …
syndrome characterized by dwarfism, hypoplastic somatic musculature, aminoaciduria and
car pulmonale secondary to alveolar hypoventilation was described. Detailed case reports
of the afflicted members of the family were presented, as were the biochemical abnormalities
exhibited by the ten year old white male propositus of the study. In this report we have
considered in greater detail the metabolic abnormalities present in this disorder …