(Q48217185)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17409006%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17409006%20AND%20SRC:MED&resulttype=core&format=json

methylenetetrahydrofolate reductase deficiency

28 December 2019

main subject

0 references

author

Hieronim Jakubowski

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17409006%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Grażyna Chwatko

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17409006%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

12

S Harvey Mudd

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17409006%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

author name string

Kevin A Strauss

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17409006%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

D Holmes Morton

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17409006%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Erik G Puffenberger

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17409006%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Christine Hendrickson

4

1 reference

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28 December 2019

Donna L Robinson

5

1 reference

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28 December 2019

Conrad Wagner

6

1 reference

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28 December 2019

Sally P Stabler

7

1 reference

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28 December 2019

Robert H Allen

8

1 reference

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28 December 2019

Mihai D Niculescu

11

1 reference

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28 December 2019

publication date

3 April 2007

1 reference

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Molecular Genetics and Metabolism

28 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17409006%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

volume

91

1 reference

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28 December 2019

issue

2

1 reference

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28 December 2019

page(s)

165-175

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17409006%20AND%20SRC:MED&resulttype=core&format=json

Methionine metabolism in mammals

28 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Methionine recycling in brain: a role for folates and vitamin B-12.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Immunohistochemical detection of betaine-homocysteine S-methyltransferase in human, pig, and rat liver and kidney

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

S-Adenosylmethionine and methylation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Prenatal diagnosis of 5,10-methylenetetrahydrofolate reductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Quantitation of choline and its metabolites in tissues and foods by liquid chromatography/electrospray ionization-isotope dilution mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Quantitation of total homocysteine, total cysteine, and methionine in normal serum and urine using capillary gas chromatography-mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

The determination of homocysteine-thiolactone in human plasma.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Measurement of plasma S-adenosylmethionine and S-adenosylhomocysteine as their fluorescent isoindoles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

CSF-methionine is elevated in psychotic patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Demyelination and inborn errors of the single carbon transfer pathway.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Evidence for hypomethylation in two children with acute lymphoblastic leukemia and leukoencephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Predominant functional activity of the large, neutral amino acid transporter (LAT1) isoform at the cerebrovasculature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Regional Distribution of 5-Methyltetrahydrofolic Acid in Brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Development of methyltransferase activities of human fetal tissues.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Brain ATP:L-methionine S-adenosyltransferase (MAT), S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH): regional distribution and age-related changes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Quantitative reversed-phase high performance liquid chromatographic determination of major and modified deoxyribonucleosides in DNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

The relationship between the activity of methionine synthase and the ratio of S-adenosylmethionine to S-adenosylhomocysteine in the brain and other tissues of the pig

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

The use of betaine in the treatment of elevated homocysteine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Screening of homocysteine from newborn blood spots by high-performance liquid chromatography with coulometric array detection

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Newborn screening for homocystinuria: Irish and world experience

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Is it time to reevaluate methyl balance in humans?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Pathophysiological consequences of homocysteine excess

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Biochemical analysis of myelin lipids and proteins in a model of methyl donor pathway deficit: effect of S-adenosylmethionine.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Physiological dependence of brain methionine and S-adenosylmethionine concentrations on serum amino acid pattern.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Source of methyl groups in brain and nerve tissue in the rat.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

Homocysteine trials--clear outcomes for complex reasons

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012

A controlled trial of homocysteine lowering and cognitive performance

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.02.012