Condition: Methylmalonic aciduria cblB type


rs1555274254 in MMAB gene and Methylmalonic aciduria cblB type PMID 16410054 2006 Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.

PMID 22695176 2012 Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.

PMID 17957493 2008 Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

PMID 15781192 2005 Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

PMID 23707710 2014 High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.

PMID 19625202 2009 Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase.

PMID 22614770 2012 Neurocognitive phenotype of isolated methylmalonic acidemia.

PMID 21048060 2011 Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.

PMID 20696242 2010 Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.

PMID 16439175 2006 Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism.

PMID 24059531 2013 Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

PMID 12471062 2002 Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

PMID 21604717 2011 Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase.

PMID 20556797 2010 Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.

PMID 23674520 2013 Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.

PMID 17176040 2006 Structure of ATP-bound human ATP:cobalamin adenosyltransferase.

PMID 15044458 2004 The structural basis for methylmalonic aciduria. The crystal structure of archaeal ATP:cobalamin adenosyltransferase.

PMID 17948227 2007 Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway.

PMID 18251506 2008 Functional characterization and mutation analysis of human ATP:Cob(I)alamin adenosyltransferase.

PMID 29039164 2017 [Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up].

PMID 29197662 2018 New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type.

PMID 17410422 2007 Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.

PMID 24516753 2014 Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.

PMID 20549364 2010 The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

rs1481415459 in MMAB;MVK gene and Methylmalonic aciduria cblB type PMID 23707710 2014 High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.