Associated Papers
Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran.
Beyzaei Z et al.
Bmc 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
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
Second-Generation Pharmacological Chaperones: Beyond Inhibitors.
Tran ML et al.
Molecules (basel, Switzerland), 2020
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia.
Kang L et al.
Journal of Inherited Metabolic Disease, 2020
Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.
Brasil S et al.
Clinical Genetics, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
[A Chinese boy with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene].
Liu YP et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
Jorge-Finnigan A et al.
Human Mutation, 2010
Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism.
Zhang J et al.
Molecular Genetics and Metabolism, 2006
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
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.
Dobson CM et al.
Human Molecular Genetics, 2002
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