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.
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Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUTFunctional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiencyEight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academiaGenetic disorders of vitamin B12 metabolism: eight complementation groups – eight genesIdentification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patientsAdenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytesMetabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscleInborn errors of cobalamin absorption and metabolism.Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemiaDevelopment of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.Genetic and genomic systems to study methylmalonic acidemia.Genome-wide significant predictors of metabolites in the one-carbon metabolism pathwayNeutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.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.Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic AcidemiaEnamel defects and salivary methylmalonate in methylmalonic acidemia.New developments in the treatment of hyperammonemia: emerging use of carglumic acid.Methylmalonic and propionic acidemias: clinical management update.Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.Methylmalonic Acidemia Diagnosis by Laboratory Methods.Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees.Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.Defective MUT does not isomerise L-MM-CoA to SUCC-CoAMutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.Targeted metabolomics in the expanded newborn screening for inborn errors of metabolismClinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.
P2860
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P2860
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.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Molecular basis of methylmalon ...... opean patients affected by mut
@nl
Molecular basis of methylmalon ...... vel mutations in the MUT gene.
@en
type
label
Molecular basis of methylmalon ...... opean patients affected by mut
@nl
Molecular basis of methylmalon ...... vel mutations in the MUT gene.
@en
prefLabel
Molecular basis of methylmalon ...... opean patients affected by mut
@nl
Molecular basis of methylmalon ...... vel mutations in the MUT gene.
@en
P2093
P2860
P356
P1433
P1476
Molecular basis of methylmalon ...... ovel mutations in the MUT gene
@en
P2093
Cécile Acquaviva
Dominique Porquet
Isabelle Callebaut
Jean-François Benoist
Sabrina Pereira
Thu Koskas
P2860
P304
P356
10.1002/HUMU.20128
P577
2005-02-01T00:00:00Z