Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency (Q40888479)

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English	Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency	scientific article

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scholarly article

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30 June 2019

http://europepmc.org/abstract/PMC/6551224

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency (English)

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30 June 2019

http://europepmc.org/abstract/PMC/6551224

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Rossella Parini

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12 June 2020

Carlo Dionisi-Vici

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12 June 2020

Johannes Häberle

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Klary E Niezen-Koning

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Dariusz Rokicki

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12 June 2020

Matthias R Baumgartner

35

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12 June 2020

Patrick F. Chinnery

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Patrick F Chinnery

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David Brian Fowler

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Brian Fowler

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12 June 2020

Friedrich Trefz

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Friedrich Trefz

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Barbara Plecko

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12 June 2020

Ute Spiekerkoetter

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Ute Spiekerkoetter

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12 June 2020

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Manuel Schiff

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12 June 2020

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Regina Mulder-Bleile

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12 June 2020

Patricie Burda

3

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12 June 2020

Terttu Suormala

5

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12 June 2020

Bruria Ben Zeev

6

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12 June 2020

Dries Dobbelaere

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12 June 2020

Gülden Gökcay

10

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12 June 2020

Mübeccel Demirkol

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12 June 2020

Alexander Lossos

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12 June 2020

Andrew A Morris

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12 June 2020

Mareike Schimmel

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12 June 2020

Adrian C Sewell

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Wolfgang Sperl

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12 June 2020

Beat Steinmann

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12 June 2020

Grazia Taddeucci

26

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12 June 2020

Jose M Trejo-Gabriel-Galán

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12 June 2020

Megumi Tsuji

29

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12 June 2020

María Antònia Vilaseca

30

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12 June 2020

Jürgen-Christoph von Kleist-Retzow

31

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12 June 2020

Valerie Walker

32

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12 June 2020

Eugen Mengel

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12 June 2020

publication date

30 May 2015

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http://europepmc.org/abstract/PMC/6551224

Journal of Inherited Metabolic Disease

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12 June 2020

115-124

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1

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12 June 2020

https://scigraph.springernature.com/pub.10.1007/s10545-015-9860-6

0 references

Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography of the brain, MR spectroscopy, and therapeutic attempts in methylenetetrahydrofolate reductase deficiency.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Recessive spastic paraparesis associated with complex I deficiency due toMTHFRmutations

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Multiple nerve palsies in beta thalassaemia major

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Cerebral folate deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Newborn screening for homocystinuria: Irish and world experience

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Long term treatment with betaine in methylenetetrahydrofolate reductase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Nutritional infantile vitamin B12 deficiency: pathobiochemical considerations in seven patients

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Treatment of inherited homocystinurias.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Isolated remethylation disorders: do our treatments benefit patients?

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Update and new concepts in vitamin responsive disorders of folate transport and metabolism

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9860-6

21 January 2018

Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/26025547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

5,10-Methylenetetrahydrofolate reductase (MTHFR) assay in the forward direction: residual activity in MTHFR deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26025547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/26025547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/26025547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash

1 reference

https://pubmed.ncbi.nlm.nih.gov/26025547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/26025547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/26025547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26025547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/26025547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/26025547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult

1 reference

https://pubmed.ncbi.nlm.nih.gov/26025547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/26025547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/26025547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1007/S10545-015-9860-6

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12 June 2020

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12 June 2020

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Europe PubMed Central

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12 June 2020

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