Author:
Rosa Luciana,Galant Leticia S.,Dall’Igna Dhébora M.,Kolling Janaina,Siebert Cassiana,Schuck Patrícia F.,Ferreira Gustavo C.,Wyse Angela T. S.,Dal-Pizzol Felipe,Scaini Giselli,Streck Emilio L.
Publisher
Springer Science and Business Media LLC
Subject
Neuroscience (miscellaneous),Cellular and Molecular Neuroscience,Neurology
Reference95 articles.
1. Menkes JH, Hurst PL, Craig JM (1954) A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance. Pediatrics 14:462
2. Dancis J, Hutzler J, Snyderman SE, Cox RP (1972) Enzyme activity in classical and variant forms of maple syrup urine disease. J Pediatr 81:312–320
3. Chuang DT, Shih VE (2001) Maple syrup urine disease (branched-chain ketoaciduria). In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 1971–2005
4. Treacy E, Clow CL, Reade TR, Chitayat D, Mamer OA, Scriver CR (1992) Maple syrup urine disease: interrelationship between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination. J Inherit Metab Dis 15:121–135
5. Schönberger S, Schweiger B, Schwahn B, Schwarz M, Wendel U (2004) Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab 82:69–75
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