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Amino Acid Metabolism, Inborn Errors/ complications/diagnosis/urine
Amino Acid Metabolism, Inborn Errors/ complications/diagnosis/urine
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This study determines the nature and course of ocular abnormalities in glutaric aciduria (acidemia) type 1 (GA1).
Abstract:
PURPOSE: To determine the nature and course of ocular abnormalities in glutaric aciduria (acidemia) type 1 (GA1). METHODS: Fifteen children with GA1 have been studied in the Republic of Ireland. A retrospective review of the records of the 6 children who died during their illness and prospective clinical examination of 9 survivors were performed. RESULTS: Seven of the 15 children had more...
International Classification:
Endocrine, nutritional and metabolic diseases - Metabolic disorders - glutaric aciduria type 1
Categories:
ocular abnormalities in glutaric aciduria
Geography:
Republic of Ireland
J Pediatr Ophthalmol Strabismus,
Vol: 37 Page: 289-93 2000 Sep-Oct
N. A. Kafil-Hussain; A. Monavari; R. Bowell; P. Thornton; E. Naughten; M. O'Keefe
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