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Type I glutaric aciduria: phenotypes and genotypes in 5 Taiwanese children.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Oct 2003

Shu San Ging, Tsai Chi Ren, Chen Liang Hui, Chi Ching Shiang

Abstract excerpt

We describe the clinical characteristics of 5 Taiwanese children with glutaric aciduria type I treated in a single medical center. Macrocephaly was present in 5 of these patients, psychomotor retardation in 4, and neurological regression in 2. Diagnosis was made prenatally in 1 patient due to an affected sibling. Low lysine/tryptophan formula, carnitine, and vitamin B2 were given to all patients. All patients...

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PMID: 14691600

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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