1. Maple syrup urine disease : further evidence that newborn screening may fail to identify variant forms;Puckett;Mol Genet Metab,2010
2. Two novel mutations in the BCKDHB gene cause the classic form of maple syrup urine disease;Wang;Gene,2012
3. NM NL Identification of a novel homozygous mutation in a Malay patient with maple syrup urine disease;Ali;J Pediatr Endocrinol Metab,2013
4. case of reversible blindness in maple syrup urine disease;Backhouse,1999
5. Backe PH Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the mutation;Brodtkorb;Mol Genet Metab,2010