Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency-Reference-Cited by-同舟云学术

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Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency

Published:2006-03-22 Issue:7 Volume:165 Page:462-466
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Debray Francois-G.,Lambert Marie,Vanasse Michel,Decarie Jean-Claude,Cameron Jessie,Levandovskiy Valeriy,Robinson Brian H.,Mitchell Grant A.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-006-0104-5.pdf

Reference28 articles.

1. Bindoff LA, Birch-Machin MA, Farnsworth L, Gardner-Medwin D, Lindsay JG, Turnbull DM (1989) Familial intermittent ataxia due to defect of the E1 component of pyruvate dehydrogenase complex. J Neurol Sci 93:311–318

2. Blass JP, Avigan J, Uhlendorf BW (1970) A defect in pyruvate decarboxylase in a child with an intermittent movement disorder. J Clin Invest 49:423–432

3. Bonne G, Benelli C, De Meirleir L, Lissens W, Chaussain M, Diry M, Clot JP, Ponsot G, Geoffroy V, Leroux JP (1993) E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy. Pediatr Res 33:284–288

4. Cameron JM, Levandovskiy V, MacKay N, Tein I, Robinson BH (2004) Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1α subunit. Am J Med Genet 131:59–66

5. Chabrol B, Mancini J, Benelli C, Gire C, Munnich A (1994) Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy. J Child Neurol 9:52–55

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