A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation-Reference-Cited by-同舟云学术

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation

Published:2006-12 Issue:4 Volume:89 Page:395-397
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Di Rocco Maja,Caruso Ubaldo,Briem Egill,Rossi Andrea,Allegri Anna E.M.,Buzzi Davide,Tiranti Valeria

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference10 articles.

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3. Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency;Garcia-Silva;Pediatr. Neurol.,1997

4. Central nervous system malformations in ethylmalonic encephalopathy;Nowaczyk;Am. J. Med. Genet.,1998

5. Therapeutical trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin;Yoon;J. Inherit. Metab. Dis.,2001

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