Condition: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency


rs1164271240 in MMUT gene and Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency PMID 22727635 2012 Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.

PMID 27167370 2016 Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.

PMID 9554742 1998 Seven novel mutations in mut methylmalonic aciduria.

PMID 9285782 1997 Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.

PMID 28101778 2017 Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.

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

PMID 7912889 1994 Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia.

PMID 9452100 1998 A common mutation among blacks with mut- methylmalonic aciduria.

PMID 1351030 1992 Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.

PMID 25125334 2014 Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

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

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

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

PMID 1977311 1990 Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.

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

PMID 11350191 2001 Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.

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

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

PMID 19588269 2009 Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias.

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 1970180 1990 Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.

PMID 2881300 1987 Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.

PMID 1346616 1992 Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.

PMID 16490061 2006 Three novel and six common mutations in 11 patients with methylmalonic acidemia.

PMID 8880917 1996 Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria.

PMID 9929975 1999 Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients.

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

PMID 25959030 2015 Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

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

PMID 24464670 2014 Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass.

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

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

PMID 2661559 1989 Tissue reaction to intraperitoneal polymer implants: species difference and effects of corticoid and doxorubicin.

PMID 23045948 2012 [Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].

PMID 27578510 2016 A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

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

PMID 22614770 2012 Neurocognitive phenotype of isolated methylmalonic acidemia.

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

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

PMID 26270765 2016 A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.

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

PMID 28811685 2017 Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.

PMID 24865477 2014 Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.

PMID 7602808 1995 [Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP].

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

PMID 22695176 2012 Clinical and molecular findings 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 17470278 2007 Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.

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

PMID 19088183 2009 Mitochondrial dysfunction in mut methylmalonic acidemia.

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

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

PMID 27751223 2016 [Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria].

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

PMID 23024777 2012 Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.

PMID 26483233 2015 On her MUT gene, a reported mutation (c.1630_1631GG>TA) and a novel mutation (c.1663C>T, p.A555T) were identified, which confirmed the diagnosis of methylmalonic aciduria (MUT type).

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

PMID 23479330 2013 Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia.

PMID 19955418 2009 A G-protein editor gates coenzyme B12 loading and is corrupted in methylmalonic aciduria.

PMID 24330302 2013 Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).

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

PMID 26420839 2015 Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria.

PMID 15781199 2005 Mutation analysis of the MCM gene in Korean patients with MMA.

PMID 17445044 2007 Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl.

PMID 27489777 2016 Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.

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