Ontogeny of amino acid reabsorption in human kidney. Evidence from the homozygous infant with familial renal iminoglycinuria for multiple proline and glycine …
L Lasley, CR Scriver - Pediatric Research, 1979 - nature.com
L Lasley, CR Scriver
Pediatric Research, 1979•nature.comSeven infants (two French Canadian, four Ashkenazi Jewish, and one Greek) with massive
selective hyperiminoglycinuria (proline, hydroxyproline, and glycine) were detected by urine
screening in the second week of life. Follow-up investigations and family studies revealed
that each subject had a benign condition, familial renal iminoglycinuria, an autosomal
recessive condition.
selective hyperiminoglycinuria (proline, hydroxyproline, and glycine) were detected by urine
screening in the second week of life. Follow-up investigations and family studies revealed
that each subject had a benign condition, familial renal iminoglycinuria, an autosomal
recessive condition.
Abstract
Seven infants (two French Canadian, four Ashkenazi Jewish, and one Greek) with massive selective hyperiminoglycinuria (proline, hydroxyproline, and glycine) were detected by urine screening in the second week of life. Follow-up investigations and family studies revealed that each subject had a benign condition, familial renal iminoglycinuria, an autosomal recessive condition.
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