Pyruvate dehydrogenase deficiency presenting as dystonia in childhood-Reference-Cited by-同舟云学术

Pyruvate dehydrogenase deficiency presenting as dystonia in childhood

Published:2007-02-13 Issue:10 Volume:46 Page:710-712
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:

Author:

Head R A,De Goede C G E L,Newton R W N,Walter J H,McShane M A,Brown R M,Brown G K

Publisher

Wiley

Subject

Clinical Neurology,Developmental Neuroscience,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-8749.2004.tb00986.x/fullpdf

Reference11 articles.

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2. Pyruvate dehydrogenase E1 alpha deficiency;Brown;J Inherit Metab Dis,1992

3. 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

4. Adult Leigh syndrome: treatment with intravenous soybean oil for acute respiratory failure;Kumagai;Eur J Neurol,1999

5. Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts;Lib;J Histochem Cytochem,2002

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