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

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

Subject(s)

Diet, Protein-Restricted; Metabolism, Inborn Errors/diet therapy; Muscle Hypotonia/diet therapy; Psychomotor Disorders/diet therapy; Blood Chemical Analysis; Brain/pathology; Child; Electroencephalography; Female; Fumarate Hydratase/deficiency; Fumarate Hydratase/genetics; Humans; Metabolism, Inborn Errors/diagnosis; Muscle Hypotonia/diagnosis; Mutation; Neuroimaging; Psychomotor Disorders/diagnosis

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Full text: 1 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 Year: 2012 Type: Article

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