Pyruvate Dehydrogenase-E1α Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2012_211
Reference17 articles.
1. Brown GK, Otero LJ, LeGris M, Brown RM (1994) Pyruvate dehydrogenase deficiency. J Med Genet 31:875–879
2. Cameron JM, Levandovskiy V, Mackay N, Tein I, Robinson BH (2004) Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit. Am J Med Genet A 131:59–66
3. Cheng CM, Kelley B, Wang J, Strauss D, Eagles DA, Bondy CA (2003) A ketogenic diet increases brain insulin-like growth factor receptor and glucose transporter gene expression. Endocrinology 144:2676–2682
4. Dahl HH, Brown GK, Brown RM et al (1992) Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene. Hum Mutat 1:97–102
5. Debray FG, Lambert M, Vanasse M et al (2006) Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency. Eur J Pediatr 165:462–466
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