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Isolated remethylation disorders: do our treatments benefit patients?

Isolated remethylation disorders: do our treatments benefit patients?

http://www.wikidata.org/entity/Q37758544

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Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients Drug treatment of inborn errors of metabolism: a systematic review Hydroxocobalamin in cyanide poisoning Postanalytical tools improve performance of newborn screening by tandem mass spectrometry.Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency Treatment with Mefolinate (5-Methyltetrahydrofolate), but Not Folic Acid or Folinic Acid, Leads to Measurable 5-Methyltetrahydrofolate in Cerebrospinal Fluid in Methylenetetrahydrofolate Reductase Deficiency.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.Homocysteine measurement in dried blood spot for neonatal detection of homocystinurias.Methylation metabolites in amniotic fluid depend on gestational age.Bacterial Metabolism Affects the C. elegans Response to Cancer Chemotherapeutics.Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.Methionine synthase reductase deficiency (CblE): A report of two patients and a novel mutation.

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Isolated remethylation disorders: do our treatments benefit patients?

http://www.wikidata.org/entity/Q37758544

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article científic

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artigo científico

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bilimsel makale

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scientific article published on 21 May 2010

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Isolated remethylation disorders: do our treatments benefit patients?

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Isolated remethylation disorders: do our treatments benefit patients?

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Isolated remethylation disorders: do our treatments benefit patients?

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Isolated remethylation disorders: do our treatments benefit patients?

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Isolated remethylation disorders: do our treatments benefit patients?

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Isolated remethylation disorders: do our treatments benefit patients?

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Journal of Inherited Metabolic Disease

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Isolated remethylation disorders: do our treatments benefit patients?

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Bogdana Tilea

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Jean-François Benoist

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Manuel Schiff

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Nicolas Royer

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Stéphane Giraudier

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P2860

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

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

Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency

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

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

Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria.

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

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

Gene identification for the cblD defect of vitamin B12 metabolism.

Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency

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s10545-010-9120-8

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137-145

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scholarly article

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10.1007/S10545-010-9120-8

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1

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34

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Hélène Ogier de Baulny

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2010-05-21T00:00:00Z

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20490923

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