(Q48111870)

8 February 2018

title

Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant. (English)

1 reference

8 February 2018

1 reference

Seung Jin Kim

1

1 reference

8 February 2018

Beom Hee Lee

2

1 reference

8 February 2018

Yoo-Mi Kim

3

1 reference

8 February 2018

Gu-Hwan Kim

4

1 reference

8 February 2018

Han-Wook Yoo

5

1 reference

8 February 2018

publication date

23 March 2013

1 reference

8 February 2018

published in

Metabolic Brain Disease

1 reference

8 February 2018

volume

28

1 reference

8 February 2018

issue

3

1 reference

8 February 2018

page(s)

519-522

1 reference

8 February 2018

https://scigraph.springernature.com/pub.10.1007/s11011-013-9398-y

exact match

0 references

cites work

Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects.

1 reference

https://api.crossref.org/works/10.1007%2FS11011-013-9398-Y

Enhanced susceptibility to arterial thrombosis in a murine model of hyperhomocysteinemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-013-9398-Y

Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-013-9398-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-013-9398-Y

Simultaneous detection of methylenetetrahydrofolate reductase gene polymorphisms, C677T and A1298C, by melting curve analysis with LightCycler

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-013-9398-Y

Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-013-9398-Y

Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-013-9398-Y

5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-013-9398-Y

Cardiology patient pages. Homocysteine and MTHFR mutations: relation to thrombosis and coronary artery disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11011-013-9398-Y

Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23526309

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S11011-013-9398-Y

1 reference

8 February 2018

release_gs4vwgfgejgtnovwzolslfgh4a

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gs4vwgfgejgtnovwzolslfgh4a

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

23526309

1 reference

8 February 2018