Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
about
Human methionine synthase reductase is a molecular chaperone for human methionine synthaseMutations in ABCD4 cause a new inborn error of vitamin B12 metabolismAdvances in the understanding of cobalamin assimilation and metabolismA human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalaminsProcessing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene productDecyanation of vitamin B12 by a trafficking chaperoneNavigating 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 FormationStructural Basis of Multifunctionality in a Vitamin B12-processing EnzymeThe C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioningCharacterization of functional domains of the cblD (MMADHC) gene productAn X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1Methylfolate Trap Promotes Bacterial Thymineless Death by Sulfa DrugsGenetic disorders of vitamin B12 metabolism: eight complementation groups – eight genesA Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect.Inborn errors of cobalamin absorption and metabolism.Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.Glutathione-dependent one-electron transfer reactions catalyzed by a B₁₂ trafficking protein.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.The X-ray crystal structure of glutathionylcobalamin revealed.Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans.Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expressionPathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHCTargeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.Cobalamin C deficiency in an adolescent with altered mental status and anorexiaWhole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.Hydroxocobalamin dose escalation improves metabolic control in cblC.Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN ReductasesDefect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation.Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC TypeNoncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C diseaseVitamin B(12) metabolism during pregnancy and in embryonic mouse models.Update on hemolytic uremic syndrome: Diagnostic and therapeutic recommendations.Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
P2860
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P2860
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
description
2005 nî lūn-bûn
@nan
2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Identification of the gene res ...... and homocystinuria, cblC type.
@ast
Identification of the gene res ...... and homocystinuria, cblC type.
@en
Identification of the gene res ...... and homocystinuria, cblC type.
@nl
type
label
Identification of the gene res ...... and homocystinuria, cblC type.
@ast
Identification of the gene res ...... and homocystinuria, cblC type.
@en
Identification of the gene res ...... and homocystinuria, cblC type.
@nl
prefLabel
Identification of the gene res ...... and homocystinuria, cblC type.
@ast
Identification of the gene res ...... and homocystinuria, cblC type.
@en
Identification of the gene res ...... and homocystinuria, cblC type.
@nl
P2093
P2860
P50
P356
P1433
P1476
Identification of the gene res ...... and homocystinuria, cblC type.
@en
P2093
Angela R Hosack
C Melissa Dobson
Carole Doré
Chantal F Morel
Daniel Leclerc
David S Rosenblatt
David Watkins
Emily Moras
Eric A Shoubridge
Gail V Dunbar
P2860
P2888
P304
P356
10.1038/NG1683
P407
P577
2005-11-27T00:00:00Z