(Q46460403)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18658082%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

title

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18658082%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference

5

1 reference

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11 January 2020

Lisa A Schimmenti

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18658082%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

author name string

Lisa Bishop

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18658082%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Richard Kanoff

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18658082%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Lawrence Charnas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18658082%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Charles Krenzel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18658082%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

publication date

1 July 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18658082%20AND%20SRC:MED&resulttype=core&format=json

Journal of Child Neurology

11 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18658082%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

volume

23

1 reference

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11 January 2020

issue

7

1 reference

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11 January 2020

page(s)

823-828

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18658082%20AND%20SRC:MED&resulttype=core&format=json

Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis

11 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1177%2F0883073808315410

Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808315410

Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808315410

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808315410

An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808315410

Worldwide distribution of a common methylenetetrahydrofolate reductase mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808315410

The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808315410

Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and risk of molecularly defined subtypes of childhood acute leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808315410

Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808315410

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808315410

Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073808315410

21 January 2018

Identifiers

DOI

10.1177/0883073808315410

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18658082%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference