Associated Papers
A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review.
Zhao C et al.
Frontiers in Pediatrics, 2023
Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review.
Xu F et al.
Frontiers in Medicine, 2023
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
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.
Xue J et al.
Molecular Genetics and Metabolism, 2012
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