(Q36538527)

14 August 2017

1 reference

title

Acquired and inherited disorders of cobalamin and folate in children (English)

1 reference

14 August 2017

1 reference

V Michael Whitehead

1

1 reference

14 August 2017

language of work or name

English

0 references

publication date

1 July 2006

1 reference

British Journal of Haematology

14 August 2017

published in

1 reference

14 August 2017

volume

134

1 reference

14 August 2017

issue

2

1 reference

14 August 2017

page(s)

125-136

1 reference

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

14 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Frequency of Down's syndrome and neural-tube defects in the same family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Functional characterization of NBC4: a new electrogenic sodium-bicarbonate cotransporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Determinants of cobalamin status in newborns

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Homocysteine and methylmalonic acid levels in pregnant Nepali women. Should cobalamin supplementation be considered?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

The Food and Drug Administration must require the addition of more folic acid in "enriched" flour and other grains

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

A Polymorphism, R653Q, in the Trifunctional Enzyme Methylenetetrahydrofolate Dehydrogenase/Methenyltetrahydrofolate Cyclohydrolase/Formyltetrahydrofolate Synthetase Is a Maternal Genetic Risk Factor for Neural Tube Defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Changes in the birth prevalence of selected birth defects after grain fortification with folic acid in the United States: findings from a multi-state population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Coma and respiratory failure in a child with severe vitamin B(12) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Reduced folate carrier polymorphism (80A-->G) and neural tube defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

The effect of folate fortification of cereal-grain products on blood folate status, dietary folate intake, and dietary folate sources among adult non-supplement users in the United States

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Abnormal folate metabolism in mothers with Down syndrome offspring: review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

High prevalence of folic acid and vitamin B12 deficiencies in infants, children, adolescents and pregnant women in Venezuela

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Hereditary folate malabsorption: family report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Marginal maternal vitamin B12 status increases the risk of offspring with spina bifida

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

The molecular basis of glutamate formiminotransferase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Prenatal and postnatal treatment in cobalamin C defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Markers for the functional availability of cobalamin/folate and their association with neuropsychiatric symptoms in the elderly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Holotranscobalamin--a first choice assay for diagnosing early vitamin B deficiency?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

A family study of congenital malabsorption of folate

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Mechanisms of homocysteine-induced atherothrombosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Folate, vitamin B12, and homocysteine levels in South Asian women with growth-retarded fetuses

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Erythrocyte folate, plasma folate and plasma homocysteine during normal pregnancy and postpartum: a longitudinal study comprising 404 Danish women

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Megalin- and cubilin-mediated endocytosis of protein-bound vitamins, lipids, and hormones in polarized epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxypeptidase II for spina bifida risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. MRC Vitamin Study Research Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Transcobalamin deficiency due to activation of an intra exonic cryptic splice site

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

MTRR and MTHFR polymorphism: link to Down syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Reduced folate carrier polymorphisms and neural tube defect risk.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Recommendations for accelerating global action to prevent folic acid-preventable birth defects and other folate-deficiency diseases: meeting of experts on preventing folic acid-preventable neural tube defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

The risk of folate and vitamin B(12) deficiencies associated with hyperhomocysteinemia among pregnant women.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Reduced folate carrier gene is a risk factor for neural tube defects in a Chinese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Association of neural tube defects and folic acid food fortification in Canada

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Nutritional infantile vitamin B12 deficiency: pathobiochemical considerations in seven patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Vitamin B12 deficiency as a worldwide problem

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Abnormal folic acid-homocysteine metabolism as maternal risk factors for Down syndrome in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Associations between polymorphisms within the thymidylate synthase gene and spina bifida

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Severe vitamin B12 deficiency in an infant associated with a maternal deficiency and a strict vegetarian diet

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06133.X

10.1111/J.1365-2141.2006.06133.X

21 January 2018

Identifiers

DOI

1 reference

14 August 2017

1 reference