Maple Syrup Urine Disease: Clinical and BIochemical Perspectives

David T. Chuang, Jacinta L. Chuang, and Rody P. Cox , Molecular and Genetic Basis of Neurologic Diseases , 2003;

Identification of the alpha aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia

Sacksteder, KA, et al. , Am J Hum Genet , 2000; (66):1736-1743

Characterization of the gene encoding alpha-aminoadipic semialdehyde synthase

Sacksteder KA et al. , Am J Hum Genet , 1999; (65 (suppl)):429A

Impaired assembly of E1 decarboxylaseof the branched-chain alpha-ketoacid dehydrogenase complex in type 1A maple syrup urine disease

Wynn RM et al. , J Biol Chem , 1998; (273):13110-13118

Molecular genetic basis of TYpe II maple syrup urine disease. Novel splicing errors caused by deletionsof internal intronic segments in E2 gene and correlations with thiamine-responsive phenotype

Chuang JL, Cox RP, Chuang DT , J Clin Invest , 1977; (100):736-744