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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

Papers overview

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2016
2016
BACKGROUND Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder caused by deficiency in arylsulfatase A activity… Expand
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Highly Cited
2013
Highly Cited
2013
Vitamin B12 (cobalamin) is a key determinant of S-adenosyl methionine (SAM)-dependent epigenomic cellular regulations related to… Expand
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2013
2013
Accurate food and nutrient intake assessment is essential for investigating diet-disease relationships. In the present study… Expand
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Highly Cited
2012
Highly Cited
2012
Food-based dietary guidelines (FBDG) aim to address the nutritional requirements at population level in order to prevent diseases… Expand
Highly Cited
2010
Highly Cited
2010
BACKGROUND Studies have questioned whether the current Recommended Dietary Allowance (RDA) of 2.4 microg vitamin B-12/d is… Expand
Highly Cited
2009
Highly Cited
2009
Background:  Elevated total homocysteine (tHcy) levels may be caused by vitamin B12 deficiency and are linked to Alzheimers… Expand
Highly Cited
2002
Highly Cited
2002
BACKGROUND Only cobalamin carried by transcobalamin (holo-transcobalamin) is available for cellular uptake and hence is… Expand
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1994
1994
Arylsulphatase A (ASA, EC 3.1.6.1) is a lysosomal enzyme that catalyses cerebroside sulphate degradation. ASA deficiency is… Expand
1983
1983
In this paper an immunoadsorption method for the selective measurement of the concentrations of saturated and unsaturated… Expand
1976
1976
The ultraviolet and the circular dichroic spectra of aquo-, hydroxy-, azido-, and cyanocobalamin free or bound to purified human… Expand