Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy-Reference-Cited by-同舟云学术

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Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy

Published:2017-01 Issue:1 Volume:27 Page:94-97
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Kara Bülent,Genç Hülya Maraş,Uyur-Yalçın Emek,Sakarya-Güneş Ayfer,Topçu Uğur,Mülayim Serap,Ceylaner Serdar

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference11 articles.

1. The pyruvate dehydrogenase complexes: structure-based function and regulation;Patel;J Biol Chem,2014

2. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with pyruvate dehydrogenase complex deficiency;Lissens;Hum Mutat,2000

3. Deficiency of the pyruvate dehydrogenase complex;Nyhan,2012

4. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype;DeBrosse;Mol Genet Metab,2012

5. Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy;Sedel;J Neurol Neurosurg Psychiatry,2008

Cited by 10 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. Imaging brain glucose metabolism in vivo reveals propionate as a major anaplerotic substrate in pyruvate dehydrogenase deficiency;Cell Metabolism;2024-06

2. Mitochondrial Alpha-Keto Acid Dehydrogenase Complexes: Recent Developments on Structure and Function in Health and Disease;Subcellular Biochemistry;2024

3. Acute Flaccid Paralysis due to Pyruvate Dehydrogenase E1-Alpha Deficiency;Indian Journal of Pediatrics;2023-10-03

4. Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency;Neuropediatrics;2023-01-24

5. Peripheral neuropathy in mitochondrial disease;Mitochondrial Diseases;2023

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