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A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling

✍ Scribed by A. Tsuchiyama; K. Oyanagi; S. Hirano; N. Tachi; H. Sogawa; K. Wagatsuma; T. Nakao; S. Tsugawa; Y. Kawamura

Book ID: 105313281
Publisher: Springer
Year: 1983
Tongue: English
Weight: 484 KB
Volume: 6
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf01800730

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## Abstract Prenatal depiction of brain dysgenesis in patients with pyruvate dehydrogenase complex (PDHc) deficiencies has been infrequently reported. As PDHc plays a critical role in the brain that obtains all of the energy from the aerobic oxidation of glucose, its deficiency is a severe inborn d