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Mild fumarase deficiency and a trial of low protein diet.
Kimonis, V E; Steller, J; Sahai, I; Grange, D K; Shoemaker, J; Zelaya, B M; Mandell, R; Shih, K; Shih, V.
Affiliation
  • Kimonis VE; Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, CA, USA. vkimonis@uci.edu
Mol Genet Metab ; 107(1-2): 241-2, 2012 Sep.
Article in En | MEDLINE | ID: mdl-22595425
We report clinical findings in a 12-year-old girl with a mild case of fumarase deficiency who continues to make progress. She has two novel mutations of the fumarase gene [c.521C>G (p.P174R) and c.908T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Psychomotor Disorders / Diet, Protein-Restricted / Metabolism, Inborn Errors / Muscle Hypotonia Type of study: Diagnostic_studies Limits: Child / Female / Humans Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2012 Document type: Article Affiliation country: United States Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Psychomotor Disorders / Diet, Protein-Restricted / Metabolism, Inborn Errors / Muscle Hypotonia Type of study: Diagnostic_studies Limits: Child / Female / Humans Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2012 Document type: Article Affiliation country: United States Country of publication: United States