Demonstration of an Unstable Variant of Pyruvate Dehydrogenase Protein (E1) in Cultured Fibroblasts from a Patient with Congenital Lactic Acidemia-Reference-Cited by-同舟云学术

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Demonstration of an Unstable Variant of Pyruvate Dehydrogenase Protein (E1) in Cultured Fibroblasts from a Patient with Congenital Lactic Acidemia

Published:1991-07 Issue:1 Volume:30 Page:11-14
ISSN:0031-3998
Container-title:Pediatric Research
language:
Short-container-title:Pediatr Res

Author:

Huq A H M Mahbubul,Ito Michinori,Naito Etsuo,Saijo Takahiko,Takeda Eiji,Kuroda Yasuhiro

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Carbamazepine responsive episodic dystonia and hallucination due to pyruvate dehydrogenase E2 (DLAT) gene mutation;Journal of Neurogenetics;2024-04-02

2. Emerging regulatory roles of mitochondrial sirtuins on pyruvate dehydrogenase complex and the related metabolic diseases: Review;Biomedical Research and Therapy;2020-02-29

3. Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency – An overview;Epilepsy Research;2015-10

4. Erratum to “The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients” Molecular Genetics and Metabolism (2012) [34–43];Molecular Genetics and Metabolism;2012-07

5. The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients;Molecular Genetics and Metabolism;2012-01

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