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

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

Item
http://www.wikidata.org/entity/Q38169974
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.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 disordersMutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.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.Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.Timing of cognitive decline in CLN3 disease.
P2860

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

Item
http://www.wikidata.org/entity/Q38169974
description
article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Survival and psychomotor devel ...... rofolate reductase deficiency.
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type
label
Survival and psychomotor devel ...... rofolate reductase deficiency.
@en
prefLabel
Survival and psychomotor devel ...... rofolate reductase deficiency.
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P921
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P1433
P1476
Survival and psychomotor devel ...... rofolate reductase deficiency.
@en
P2093
P304
P31
P356
10.1001/JAMANEUROL.2013.4915
P407
P433
P478
P50
P577
P698
P921