Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism-Reference-Cited by-同舟云学术

Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism

Published:1998-07 Issue:7 Volume:47 Page:836-839
ISSN:0026-0495
Container-title:Metabolism
language:en
Short-container-title:Metabolism

Author:

Nowaczyk Malgorzata J.M.,Lehotay Denis C.,Platt B.-A.,Fisher Larry,Tan Rosemary,Phillips Helen,Clarke J.T.R.

Publisher

Elsevier BV

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference14 articles.

1. New clinical phenotype of branched-chain acyl-CoA oxidation defect;Burlina;Lancet,1991

2. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts;Burlina;J Pediatr,1994

3. Ethylmalonic aciduria: An organic acidemia with CNS involvement and vasculopathy;Ozand;Brain Dev,1994

4. Nephrotic syndrome and dysmorphic facial features in a new family of three affected siblings with ethylmalonic encephalopathy;Chen;Am J Hum Genet,1994

5. Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency;Garcia-Silva;J Pediatr,1994

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