about
Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduriaCombined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.In vitamin B12 deficiency, higher serum folate is associated with increased total homocysteine and methylmalonic acid concentrations.Impeded electron transfer from a pathogenic FMN domain mutant of methionine synthase reductase and its responsiveness to flavin supplementationIdentification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia.Transcobalamin (TC) deficiency--potential cause of bone marrow failure in childhood.Cobalamin deficiency results in an abnormal increase in L-methylmalonyl-co-enzyme-A mutase expression in rat liver and COS-7 cells.
P2860
Q24605458-69E75548-4E68-4CF5-B19D-186BC71C06D0Q34448257-5E8145C5-B00F-47C3-94DC-AFD8F9CB19E3Q36289002-3D9F649E-C7CD-42FF-9D02-9E497C54CBF6Q37104912-A43996B9-30E8-49A9-98DC-D3113C74BD08Q42119569-B2BCA1F8-4AD6-4FC5-9138-F89883D643FBQ46290623-68AB9666-4BDF-4060-BEA5-9DD2780A670DQ46423975-01B816E4-A248-4CED-9E02-B7B286772C7C
P2860
description
1987 nî lūn-bûn
@nan
1987年の論文
@ja
1987年学术文章
@wuu
1987年学术文章
@zh-cn
1987年学术文章
@zh-hans
1987年学术文章
@zh-my
1987年学术文章
@zh-sg
1987年學術文章
@yue
1987年學術文章
@zh
1987年學術文章
@zh-hant
name
Inherited disorders of vitamin B12 metabolism.
@en
Inherited disorders of vitamin B12 metabolism.
@nl
type
label
Inherited disorders of vitamin B12 metabolism.
@en
Inherited disorders of vitamin B12 metabolism.
@nl
prefLabel
Inherited disorders of vitamin B12 metabolism.
@en
Inherited disorders of vitamin B12 metabolism.
@nl
P1433
P1476
Inherited disorders of vitamin B12 metabolism.
@en
P2093
Rosenblatt DS
P304
P356
10.1016/0268-960X(87)90033-6
P577
1987-09-01T00:00:00Z