Associated Papers
Phenylbutyrate therapy for maple syrup urine disease.
Brunetti-Pierri N et al.
Human Molecular Genetics, 2011
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
Flaschker N et al.
Journal of Inherited Metabolic Disease, 2007
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
Henneke M et al.
Human Mutation, 2003
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