Associated Papers
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
Jansen GA et al.
Human Mutation, 2004
Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.
Mukherji M et al.
Human Molecular Genetics, 2001
Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease.
Wynn RM et al.
The Journal of Biological Chemistry, 1998
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