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
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment.
Celato A et al.
Brain & Development, 2013
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.
Xue J et al.
Molecular Genetics and Metabolism, 2012
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
Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.
Santer R et al.
Clinical Chemistry, 2003
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