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Article

Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.

Pediatric research - 1 Mar 1990

Loehr J P, Goodman S I, Frerman F E

Abstract excerpt

We have examined 23 fibroblast lines from patients with neonatal and late onset glutaric acidemia type II and fibroblasts from four parents of these patients. Fifteen of these patients are previously unreported. Results of these investigations show deficiency of electron transfer flavoprotein or electron transfer flavoprotein-ubiquinone oxidoreductase activity in all of the patients' fibroblasts. Immunoblots...

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Identifiers

PMID: 2320399
DOI: 10.1203/00006450-199003000-00024

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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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