(Q34477752)

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CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency

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scholarly article

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Europe PubMed Central

PubMed publication ID

2 August 2017

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CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

congenital disorder

0 references

1 reference

based on heuristic

inferred from title

hereditary folate malabsorption

1 reference

based on heuristic

inferred from title

1

object named as

A Torres

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Arturo Borzutzky

object named as

A Borzutzky

4

0 references

Ellis J Neufeld

1 reference

ORCID Public Data File 2021

author name string

S A Newton

2

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

B Crompton

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

E J Neufeld

5

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

L Notarangelo

6

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

G T Berry

7

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

publication date

26 May 2015

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Journal of Inherited Metabolic Disorders Reports

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

24

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

91-96

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Impact of folate therapy on combined immunodeficiency secondary to hereditary folate malabsorption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Identification of a functionally critical GXXG motif and its relationship to the folate binding site of the proton-coupled folate transporter (PCFT-SLC46A1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

A role for the proton-coupled folate transporter (PCFT-SLC46A1) in folate receptor-mediated endocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Folate deficiency induces genomic uracil misincorporation and hypomethylation but does not increase DNA point mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Folate deficiency induces neurodegeneration and brain dysfunction in mice lacking uracil DNA glycosylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Folate-responsive neurologic diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Neurological manifestations of folate transport defect: case report and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Acquired and inherited disorders of cobalamin and folate in children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

A folate- and methyl-deficient diet alters the expression of DNA methyltransferases and methyl CpG binding proteins involved in epigenetic gene silencing in livers of F344 rats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Membrane transport of folates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Hereditary folate malabsorption: family report and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Blood-brain barrier transport of reduced folic acid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Modern clinical testing strategies in cobalamin and folate deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal damage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Biochemical pathogenesis of subacute combined degeneration of the spinal cord and brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Therapy of congenital folate malabsorption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Transport characteristics of folates in cerebrospinal fluid; a study utilizing doubly labeled 5-methyltetrahydrofolate and 5-formyltetrahydrofolate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Congenital isolated defect of folic acid absorption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Congenital folate malabsorption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Congenital isolated folic acid malabsorption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Folate-binding proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

High-affinity folate binding in human choroid plexus. Characterization of radioligand binding, immunoreactivity, molecular heterogeneity and hydrophobic domain of the binding protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Persistence of neutrophil hypersegmentation during recovery from megaloblastic granulopoiesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

Letter: Congenital folate deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

6 July 2018

The first Chinese case report of hereditary folate malabsorption with a novel mutation on SLC46A1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

27 October 2018

Addressing a folate imbalance in fetal cerebrospinal fluid can decrease the incidence of congenital hydrocephalus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

27 October 2018

Epigenetic alterations in the brains of Fisher 344 rats induced by long-term administration of folate/methyl-deficient diet.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

27 October 2018

Cerebral folate deficiency: life-changing supplementation with folinic acid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

27 October 2018

Single oral doses of 13C forms of pteroylmonoglutamic acid and 5-formyltetrahydrofolic acid elicit differences in short-term kinetics of labelled and unlabelled folates in plasma: potential problems in interpretation of folate bioavailability studie

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

27 October 2018

A family study of congenital malabsorption of folate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

27 October 2018

Folate deficiency beyond megaloblastic anemia: hyperhomocysteinemia and other manifestations of dysfunctional folate status

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4582027

27 October 2018

Folate deficiency alters melatonin secretion in rats

1 reference

https://pubmed.ncbi.nlm.nih.gov/26006721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebral folate deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/26006721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolated congenital malabsorption of folic acid in a male infant: insights into treatment and mechanism of defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/26006721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital folate malabsorption: reversible clinical and neurophysiologic abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/26006721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial purification and characterization of a folatebinding protein from human choroid plexus

1 reference

https://pubmed.ncbi.nlm.nih.gov/26006721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distinct effects of folate and choline deficiency on plasma kinetics of methionine and homocysteine in rats

1 reference

https://pubmed.ncbi.nlm.nih.gov/26006721

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/8904_2015_445

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

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