Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
about
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaMolecular 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 patientsA detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemiaAdenoviral-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.A G-protein editor gates coenzyme B12 loading and is corrupted in methylmalonic aciduria.Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemiaNoninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia.Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations.Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNAAcquired and inherited disorders of cobalamin and folate in children.Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic AcidemiaSuccessful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia.Enamel defects and salivary methylmalonate in methylmalonic acidemia.Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass.Methylmalonic and propionic acidemias: clinical management update.Methylmalonic Acidemia Diagnosis by Laboratory Methods.Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees.Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite populationMutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.Defective MUT causes methylmalonic aciduria mut typeFollow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel.Defective MMAA does not protect MUTDefective MUT does not isomerise L-MM-CoA to SUCC-CoAMUT isomerises L-MM-CoA to SUCC-CoAMMAA:MUT binds AdoCblMutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).Clinical 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
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Spectrum of mutations in mut m ...... spanic mutation and haplotype.
@en
type
label
Spectrum of mutations in mut m ...... spanic mutation and haplotype.
@en
prefLabel
Spectrum of mutations in mut m ...... spanic mutation and haplotype.
@en
P2093
P356
P1433
P1476
Spectrum of mutations in mut m ...... spanic mutation and haplotype.
@en
P2093
Adam Hofmann
Alya'a Sammak
Andrei Verner
David S Rosenblatt
Jamie C Tirone
Kirsten Niles
Lisa C Worgan
Pierre Lepage
Terrence Kucic
P2860
P356
10.1002/HUMU.20258
P577
2006-01-01T00:00:00Z