Associated Papers
A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review.
Zhao C et al.
Frontiers in Pediatrics, 2023
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Snanoudj S et al.
International Journal of Molecular Sciences, 2021
Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
Malvagia S et al.
Annals of Human Genetics, 2007
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.
Wightman PJ et al.
Human Mutation, 2003
Select a paper to view details