(Q50795070)

19 March 2018

title

Cerebral folate deficiency: a neurometabolic syndrome? (English)

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19 March 2018

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2

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author name string

Sarah Mangold

1

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Thomas Opladen

3

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Robert Steinfeld

4

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19 March 2018

Britta Wessling

5

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Klaus Zerres

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Martin Häusler

7

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publication date

14 June 2011

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19 March 2018

Molecular Genetics and Metabolism

published in

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19 March 2018

volume

104

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19 March 2018

issue

3

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page(s)

369-372

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19 March 2018

Reduced folate transport to the CNS in female Rett patients

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.06.004

Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

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Mitochondrial diseases associated with cerebral folate deficiency.

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Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.06.004

Cerebral folate deficiency

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Cerebral Folate Deficiency Syndromes in Childhood

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Cerebral folate deficiency

7 January 2021

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Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.06.004

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.06.004

Congenital null mutations of the FOLR1 gene: a progressive neurologic disease and its treatment

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.06.004

Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.06.004

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency

7 January 2021

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Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.06.004

Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.06.004

Folic acid supplementation for the prevention of neural tube defects: an update of the evidence for the U.S. Preventive Services Task Force

7 January 2021

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Maternal epilepsy and abnormalities of the fetus and newborn

7 January 2021

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Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.06.004

10.1016/J.YMGME.2011.06.004

7 January 2021

Identifiers

DOI

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19 March 2018

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19 March 2018