Methylenetetrahydrofolate reductase deficiency in four siblings: a clinical, biochemical, and molecular study of the family (Q73680974)

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5 November 2019

title

Methylenetetrahydrofolate reductase deficiency in four siblings: a clinical, biochemical, and molecular study of the family (English)

1 reference

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methylenetetrahydrofolate reductase deficiency

5 November 2019

main subject

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author name string

C Tonetti

1

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5 November 2019

A Burtscher

2

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5 November 2019

D Bories

3

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5 November 2019

M Tulliez

4

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5 November 2019

J Zittoun

5

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5 November 2019

publication date

1 April 2000

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American Journal of Medical Genetics Part A

5 November 2019

published in

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5 November 2019

volume

91

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5 November 2019

issue

5

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5 November 2019

page(s)

363-367

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The total serum homocysteine as an indicator of vitamin B12 and folate status

5 November 2019

cites work

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A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

21 January 2018

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Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification

21 January 2018

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Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)

21 January 2018

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Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

21 January 2018

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Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.

21 January 2018

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Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.

21 January 2018

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Mammalian methylenetetrahydrofolate reductase. Partial purification, properties, and inhibition by S-adenosylmethionine

21 January 2018

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Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies

21 January 2018

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Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult

21 January 2018

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Remethylation defects: guidelines for clinical diagnosis and treatment

21 January 2018

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Homocystinuria due to 5,10-methylenetetra-hydrofolate reductase deficiency revealed by stroke in adult siblings

21 January 2018

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Congenital errors of folate metabolism

21 January 2018

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Plasma homocysteine levels related to interactions between folate status and methylenetetrahydrofolate reductase: a study in 52 healthy subjects

21 January 2018

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10.1002/(SICI)1096-8628(20000424)91:5<363::AID-AJMG9>3.0.CO;2-X

21 January 2018

Identifiers

DOI

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5 November 2019

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