about
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloningVitamin B12 among Vegetarians: Status, Assessment and SupplementationTreatment of vitamin B12 deficiency-methylcobalamine? Cyancobalamine? Hydroxocobalamin?-clearing the confusion1H NMR characterization of normal human cerebrospinal fluid and the detection of methylmalonic acid in a vitamin B12 deficient patientThe transcobalamin receptor knockout mouse: a model for vitamin B12 deficiency in the central nervous systemMutations inmut methylmalonic acidemia: Clinical and enzymatic correlationsGenetic disorders of vitamin B12 metabolism: eight complementation groups – eight genesInborn errors of cobalamin absorption and metabolism.Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin.Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase.Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.Persistence of neurological damage induced by dietary vitamin B-12 deficiency in infancy.The effects of vitamins B12, B6, and folate on blood homocysteine levels.Lmbrd1 expression is essential for the initiation of gastrulationPerspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.Inherited disorders of vitamin B12 utilization.Plasma total homocysteine status of vegetarians compared with omnivores: a systematic review and meta-analysis.Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.Cobalamin.In vitro and in vivo inactivation of transcobalamin II receptor by its antiserum.Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review.Bipolar functional expression of transcobalamin II receptor in human intestinal epithelial Caco-2 cells.Expression of transcobalamin II mRNA in human tissues and cultured fibroblasts from normal and transcobalamin II-deficient patients.Effect of hydroxycobalamin[c-lactam] on propionate and carnitine metabolism in the rat.Regulation of expression of transcobalamin II receptor in the rat.Rat transcobalamin: cloning and regulation of mRNA expression.Characterization of the human transcobalamin II promoter. A proximal GC/GT box is a dominant negative element.Relationship of normal serum vitamin B12 and folate levels to cognitive test performance in subtypes of geriatric major depression.Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death.
P2860
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P2860
description
1987 nî lūn-bûn
@nan
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
1987年论文
@zh
1987年论文
@zh-cn
name
Inherited defects of vitamin B12 metabolism.
@en
Inherited defects of vitamin B12 metabolism.
@nl
type
label
Inherited defects of vitamin B12 metabolism.
@en
Inherited defects of vitamin B12 metabolism.
@nl
prefLabel
Inherited defects of vitamin B12 metabolism.
@en
Inherited defects of vitamin B12 metabolism.
@nl
P1476
Inherited defects of vitamin B12 metabolism.
@en
P2093
Rosenblatt DS
P304
P356
10.1146/ANNUREV.NU.07.070187.001451
P407
P577
1987-01-01T00:00:00Z