Gene identification for the cblD defect of vitamin B12 metabolism.
about
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolismAdvances in the understanding of cobalamin assimilation and metabolismProcessing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene productNavigating the B(12) road: assimilation, delivery, and disorders of cobalaminProposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaStructures of the Human GTPase MMAA and Vitamin B 12 -dependent Methylmalonyl-CoA Mutase and Insight into Their Complex FormationABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human DiseaseThe C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioningCharacterization of functional domains of the cblD (MMADHC) gene productFunctional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiencyAn X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1Neuroenhancement with vitamin B12-underestimated neurological significancePositive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12)Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genesInborn errors of cobalamin absorption and metabolism.Microcell-mediated chromosome transfer identifies EPB41L3 as a functional suppressor of epithelial ovarian cancers.Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism.Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.Genome-wide methylation and gene expression changes in newborn rats following maternal protein restriction and reversal by folic acidCandidate genes in quantitative trait loci associated with absolute and relative kidney weight in rats with Inherited Stress Induced Arterial Hypertension.Sex modifies genetic effects on residual variance in urinary calcium excretion in rat (Rattus norvegicus)Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN ReductasesStructural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.Opportunistic Screening of Vitamin B12 Deficiency in IT Professionals Presenting for Routine Health Check-up.Neurobehavioral assessment in forensic practicePharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.Lmbrd1 expression is essential for the initiation of gastrulationDefect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation.High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.The tinker, tailor, soldier in intracellular B12 trafficking.LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism.Isolated remethylation disorders: do our treatments benefit patients?Age-related lysosomal dysfunction: an unrecognized roadblock for cobalamin trafficking?Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patientsVitamin B12-loaded solid lipid nanoparticles as a drug carrier in cancer therapy.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Molecular picture of cobalamin C/D defects before and after newborn screening era.
P2860
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P2860
Gene identification for the cblD defect of vitamin B12 metabolism.
description
2008 nî lūn-bûn
@nan
2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Gene identification for the cblD defect of vitamin B12 metabolism.
@ast
Gene identification for the cblD defect of vitamin B12 metabolism.
@en
Gene identification for the cblD defect of vitamin B12 metabolism.
@nl
type
label
Gene identification for the cblD defect of vitamin B12 metabolism.
@ast
Gene identification for the cblD defect of vitamin B12 metabolism.
@en
Gene identification for the cblD defect of vitamin B12 metabolism.
@nl
prefLabel
Gene identification for the cblD defect of vitamin B12 metabolism.
@ast
Gene identification for the cblD defect of vitamin B12 metabolism.
@en
Gene identification for the cblD defect of vitamin B12 metabolism.
@nl
P2093
P921
P356
P1476
Gene identification for the cblD defect of vitamin B12 metabolism.
@en
P2093
Brian Fowler
David S Rosenblatt
Jordan P Lerner-Ellis
Martin Stucki
Robert F Newbold
Terttu Suormala
P304
P356
10.1056/NEJMOA072200
P407
P577
2008-04-01T00:00:00Z