Atypical phenotype in a boy with a maple syrup urine disease

Author:

Ben-Omran T. I.,Blaser S.,Phillips H.,Callahan J.,Feigenbaum A.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Barkovich AJ (1995) Toxic and metabolic brain disorders. Pediatric Neuroimaging, 2nd edn. Philadelphia: Lippincott-Raven, p. 67.

2. Brismar J, Aqeel A, Brismar G, Coates R, Gascon G, Ozand P (1990) Maple syrup urine disease: findings on CT and MR scans of the brain in 10 infants. AJNR Am J Neuroradiol 6: 1219–1228.

3. Chuang DT (1998) Maple syrup urine disease: it has come a long way. J Pediatr 132 (3 Pt 2): S17–23.

4. Chuang DT, Shih VE (2001) Maple syrup urine disease (branched-chain ketoaciduria). In: Scriver CR, Sly WS, Childs B, eds; Childs B, Kinzler KW, Vogelstein, B, assoc. eds. The Metabolic and Molecular bases of Inherited Disease, 8th edn. McGraw-Hill, New York, 1971–1995.

5. Chuang JL, Wynn RM, Moss CC, et al (2004) Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype. J Biol Chem 23279(17): 17792–17800.

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