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Patient case report | Main data
Patient ID 242
Diagnosis GLUTARIC ACIDEMIA I (MIM 231670)
Gender f
Age of symptoms onset 2 Month(s)
Age of diagnosis 2.58 Year(s)
Found in newborn screening n
Diagnosis confirmed n
Country Germany
Ethnic origin Mother: German, Father: German
History The child of non consanguinic parents presentated progressive psychomotoric retardation after two months of normal development. After 34 months of follow up the child remained severely handicapped. Pediatrics 1991;88:1194-1203 1956737
Author Published Cases
Hospital Published Case
Coauthor(s) Hoffmann GF, Trefz FK, Barth PG, Boehles HF, Biggemann B, Bremer HJ et al
Date of entry 2001-07-15 19:39:17
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