Associated Papers
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Snanoudj S et al.
International Journal of Molecular Sciences, 2021
34884438 (PubMed )
Supplement: ijms-22-12633-s001.zip › ijms-1444989-supplementary.xlsx › TableS2
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
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