Associated Papers
Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.
Kılıç M et al.
American Journal of Medical Genetics. Part A, 2025
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
Oyarzabal A et al.
Human Mutation, 2013
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