(Q73680974)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767000%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767000%20AND%20SRC:MED&resulttype=core&format=json

methylenetetrahydrofolate reductase deficiency

5 November 2019

main subject

0 references

author name string

C Tonetti

1

1 reference

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5 November 2019

A Burtscher

2

1 reference

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5 November 2019

D Bories

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767000%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

M Tulliez

4

1 reference

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5 November 2019

J Zittoun

5

1 reference

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5 November 2019

publication date

1 April 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767000%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

5 November 2019

published in

1 reference

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5 November 2019

volume

91

1 reference

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5 November 2019

issue

5

1 reference

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5 November 2019

page(s)

363-367

1 reference

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

5 November 2019

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)

21 January 2018

1 reference

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Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

21 January 2018

1 reference

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Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies

21 January 2018

1 reference

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Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult

21 January 2018

1 reference

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Remethylation defects: guidelines for clinical diagnosis and treatment

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000424%2991%3A5%3C363%3A%3AAID-AJMG9%3E3.0.CO%3B2-X

Congenital errors of folate metabolism

21 January 2018

1 reference

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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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2820000424%2991%3A5%3C363%3A%3AAID-AJMG9%3E3.0.CO%3B2-X

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

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767000%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference