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Transcobalamin I Deficiency

Known as: TCN1 DEFICIENCY, Cobalamin R Binder Protein Deficiency, COBALAMIN PSEUDODEFICIENCY DUE TO TRANSCOBALAMIN DEFICIENCY 
National Institutes of Health

Related topics

Related topics

3 relations
Autosomal recessive inheritance

Broader (2)

Inborn Errors of MetabolismTranscobalamin

Papers overview

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2016
2016
[Association of Crohn's disease with transcobalamin Ⅱ gene polymorphisms and serum homocysteine, folate and vitamin B12 levels in Chinese patients].
OBJECTIVE To investigate the association of Crohn's disease (CD) with transcobalamin Ⅱ (TCN2) gene polymorphisms and serum… 
2009
2009
Folate and vitamin B12 status of women of reproductive age living in Hanoi City and Hai Duong Province of Vietnam
Abstract Objectives To assess the folate and vitamin B12 status of a group of Vietnamese women of reproductive age and to… 
2009
2009
Plasma turnover of 57cobalt-vitamin B12 bound to transcobalamin I and II.
The plasma turnover of radioactive vitamin B12 bound in vitro to each of the two plasma binders (transcobalamins) was studied… 
Review
2007
Review
2007
Development of dementia in mild cognitive impairment (MCI) patients with focus on B-vitamins
English This thesis focused on the importance of low B-vitamins, hyperhomocysteinemia and the development of dementia and… 
2007
2007
ポンペ病および pseudodeficiency と思われる症例群の分子病態の解明
1994
1994
Frequency ofarylsulphatase A pseudodeficiency associated mutations ina healthy population
Arylsulphatase A (ASA,EC 3.1.6.1) isa lysosomal enzyme thatcatalyses cerebrosidesulphate degradation. ASA deficiency isassociated… 
1988
1988
Separation of transcobalamin II isoproteins by means of chromatofocusing.
1976
1976
Changes in the ultraviolet and circular dichroism spectra of aquo-, hydroxy-, azido-, and cyanocobalamin when bound to human intrinsic factor or human transcobalamin I.
1975
1975
Absence of an intracellular cobalamin-binding protein in cultured fibroblasts from patients with defective synthesis of 5'-deoxyadenosylcobalamin and methylcobalamin.
Three distinct classes of human mutations (cbl A, cbl B, and cbl C) cause defective synthesis of cobalamin (Cbl; vitamin B(12… 
1974
1974
Turnover studies with radio-iodine-labelled transcobalamin I.
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