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
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 2022
35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Snanoudj S et al.
International Journal of Molecular Sciences, 2021
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
Plutino M et al.
Bmc Medical Genetics, 2018
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
Nava C et al.
Amino Acids, 2015
26215737 (PubMed )
Supplement: 726_2015_2057_MOESM2_ESM.xlsx › Sup_Table_3
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
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