(Q40931038)

25 September 2017

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title

Congenital errors of folate metabolism (English)

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25 September 2017

0 references

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Zittoun J

1

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25 September 2017

publication date

1 September 1995

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Best Practice and Research: Clinical Haematology

25 September 2017

published in

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25 September 2017

volume

8

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25 September 2017

issue

3

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25 September 2017

page(s)

603-616

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Potocytosis: Sequestration and Transport of Small Molecules by Caveolae

25 September 2017

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Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methyltetrahydrofolate transferase deficiency

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7 January 2021

Folate-Induced Remission in Aplastic Anemia with Familial Defect of Cellular Folate Uptake

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Prenatal diagnosis of 5,10-methylenetetrahydrofolate reductase deficiency

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Congenital folate malabsorption

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Folate metabolism disorder in Kearns-Sayre syndrome

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Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity

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Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification

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Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

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Hereditary abnormal transcobalamin II previously diagnosed as congenital dihydrofolate reductase deficiency

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Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency

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Morphologic Studies in a Patient with Homocystinuria due to 5,10-Methylenetetrahydrofolate Reductase Deficiency

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7 January 2021

Congenital isolated defect of folic acid absorption

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7 January 2021

Heterogeneity in cblG: Differential retention of cobalamin on methionine synthase

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Congenital folate malabsorption: reversible clinical and neurophysiologic abnormalities

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

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7 January 2021

Homocystinuria due to 5,10-methylenetetra-hydrofolate reductase deficiency revealed by stroke in adult siblings

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7 January 2021

Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system

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7 January 2021

Megaloblastic anemia and immune abnormalities in a patient with methionine synthase deficiency.

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7 January 2021

10.1016/S0950-3536(05)80222-7

Identifiers

DOI

1 reference

25 September 2017

1 reference