(Q37758544)

22 August 2017

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title

Isolated remethylation disorders: do our treatments benefit patients? (English)

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22 August 2017

Hélène Ogier de Baulny

6

object named as

Hélène Ogier de Baulny

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22 August 2017

Manuel Schiff

1

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22 August 2017

Jean-François Benoist

2

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22 August 2017

Bogdana Tilea

3

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22 August 2017

Nicolas Royer

4

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22 August 2017

Stéphane Giraudier

5

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22 August 2017

21 May 2010

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Journal of Inherited Metabolic Disease

22 August 2017

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22 August 2017

34

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22 August 2017

1

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22 August 2017

137-145

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9120-8

22 August 2017

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Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood

21 January 2018

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Hydroxocobalamin dose escalation improves metabolic control in cblC.

21 January 2018

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

21 January 2018

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Gene identification for the cblD defect of vitamin B12 metabolism

21 January 2018

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Reduced brain choline in homocystinuria due to remethylation defects

21 January 2018

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The forms of vitamin B12 in foods

21 January 2018

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Homocysteine: overview of biochemistry, molecular biology, and role in disease processes

21 January 2018

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Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review

21 January 2018

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Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency

21 January 2018

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Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency

21 January 2018

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Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

21 January 2018

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Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease).

21 January 2018

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Detection of heterozygotes for homocystinuria. Study of sulphur-containing amino acids in plasma and urine after L-methionine loading

21 January 2018

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Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism

21 January 2018

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Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria

21 January 2018

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Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency

21 January 2018

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Cellular folate vitamer distribution during and after correction of vitamin B12 deficiency: a case for the methylfolate trap

21 January 2018

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

21 January 2018

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The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

21 January 2018

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21 January 2018

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

21 January 2018

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Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency.

21 January 2018

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Acquired and inherited disorders of cobalamin and folate in children

21 January 2018

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The natural history of vascular disease in homocystinuria and the effects of treatment

21 January 2018

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Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy

21 January 2018

1 reference

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L-ascorbic acid improves the serum folate response to an oral dose of [6S]-5-methyltetrahydrofolic acid in healthy men

21 January 2018

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Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells

21 January 2018

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12 December 2020

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

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12 December 2020

Folic acid with or without vitamin B12 for the prevention and treatment of healthy elderly and demented people

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12 December 2020

Chemical and nutritional aspects of folate research: analytical procedures, methods of folate synthesis, stability, and bioavailability of dietary folates.

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12 December 2020

Is it time to reevaluate methyl balance in humans?

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Remethylation defects: guidelines for clinical diagnosis and treatment

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12 December 2020

Inborn errors of sulfur-containing amino acid metabolism

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12 December 2020

The short-term bioavailabilities of [6S]-5-methyltetrahydrofolate and folic acid are equivalent in men.

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12 December 2020

Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency

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12 December 2020

Toxicity of methionine in humans

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12 December 2020

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

1 reference

12 December 2020

Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy

1 reference

12 December 2020

10.1007/S10545-010-9120-8

Identifiers

DOI

1 reference

22 August 2017

1 reference