Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.
Gupta N et al.
Indian Journal of Pediatrics, 2024
Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach.
Maryami F et al.
Hereditas, 2023
Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.
Jafari M et al.
Iranian Biomedical Journal, 2023
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
Forny P et al.
Human Genetics, 2022
Patient mutations in human ATP:cob(I)alamin adenosyltransferase differentially affect its catalytic versus chaperone functions.
Gouda H et al.
The Journal of Biological Chemistry, 2021
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
Şeker Yılmaz B et al.
Turkish Journal of Medical Sciences, 2021
Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias.
Kiykim E et al.
Molecular Genetics and Metabolism Reports, 2021
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
Lerner-Ellis JP et al.
Molecular Genetics and Metabolism, 2006
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