Condition: Methylmalonic acidemia


rs104893851 in MMAA gene and Methylmalonic acidemia PMID 26370686 2015 Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.

PMID 27591164 2017 Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.

PMID 24095221 2013 Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.

PMID 15308131 2004 Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.

PMID 15523652 2004 Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 25748407 2015 [Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA].

PMID 23026888 2012 High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.

rs28941784 in MMAB gene and Methylmalonic acidemia PMID 16311595 2006 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

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

PMID 22614770 2012 Neurocognitive phenotype of isolated methylmalonic acidemia.

PMID 16410054 2006 Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.

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

PMID 24813872 2015 Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.

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

PMID 15523652 2004 Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

PMID 26589311 2016 Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

rs1028877309 in MMUT gene and Methylmalonic acidemia PMID 16281286 2006 Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.

PMID 21114891 2010 Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes.

PMID 27233228 2016 Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.

PMID 1670635 1991 Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.

PMID 26615597 2016 Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

PMID 26790480 2016 Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.

PMID 17113806 2007 Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.

PMID 11528502 2001 N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

PMID 17075691 2007 Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia.

PMID 20603089 2010 Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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

PMID 25750861 2015 Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.

PMID 25299208 2014 Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria.

PMID 15643616 2005 Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

PMID 19375370 2009 Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

PMID 23430940 2012 Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.

PMID 25771389 2015 Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation.

PMID 22727635 2012 Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.

PMID 12402345 2002 Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations.

PMID 26454439 2015 Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.

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

PMID 16435223 2005 Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.

PMID 10923046 2000 mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.