Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency-Reference-Cited by-同舟云学术

Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency

Published:2016-02-09 Issue:3 Volume:75 Page:227-238
ISSN:0022-3069
Container-title:Journal of Neuropathology & Experimental Neurology
language:en
Short-container-title:J Neuropathol Exp Neurol

Author:

Pirot Nathalie,Crahes Marie,Adle-Biassette Homa,Soares Anais,Bucourt Martine,Boutron Audrey,Carbillon Lionel,Mignot Cyril,Trestard Laetitia,Bekri Soumeya,Laquerrière Annie

Publisher

Oxford University Press (OUP)

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Neurology,General Medicine,Pathology and Forensic Medicine

Link

http://academic.oup.com/jnen/article-pdf/75/3/227/7713156/nlv022.pdf

Reference38 articles.

1. A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging

2. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: Exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex;Chun;Am J Hum Genet,1995

3. Mutational study in thePDHA1gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

4. Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS→TVDQS)

5. Mutations in the X-linked pyruvate dehydrogenase (E1) ? subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

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