Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

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Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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name

Adolescence/adult onset MTHFR ...... t neuro-psychiatric syndromes.

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Adolescence/adult onset MTHFR ...... t neuro-psychiatric syndromes.

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type

Item

label

Adolescence/adult onset MTHFR ...... t neuro-psychiatric syndromes.

@en

Adolescence/adult onset MTHFR ...... t neuro-psychiatric syndromes.

@nl

prefLabel

Adolescence/adult onset MTHFR ...... t neuro-psychiatric syndromes.

@en

Adolescence/adult onset MTHFR ...... t neuro-psychiatric syndromes.

@nl

P1476

Adolescence/adult onset MTHFR ...... t neuro-psychiatric syndromes.

@en

P2093

Ana Gales

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Claude Adam

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Claudio Salim

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Laure Grosliere

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Marion Masingue

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Stephane Giraudier

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Stephanie Millecamps

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Vincent Navarro

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Yann Nadjar

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P275

Creative Commons Attribution 4.0 International

P2860

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

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

Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

Isolated remethylation disorders: do our treatments benefit patients?

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

Mutation 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.

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

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s13023-018-0767-9

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scholarly article

review article

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10.1186/S13023-018-0767-9

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2018-02-01T00:00:00Z

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1100765445

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29391032

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5796584

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