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 › TableS1
A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed case.
Ersoy M et al.
Clinical Case Reports, 2017
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