(Q42007772)

English

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

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

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

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

0 references

1 reference

based on heuristic

inferred from title

hereditary folate malabsorption

1 reference

based on heuristic

inferred from title

author name string

N Diop-Bove

1

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

M Jain

2

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

F Scaglia

3

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

I D Goldman

4

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

language of work or name

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publication date

28 June 2013

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

527

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

2

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

673-674

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Mechanisms of membrane transport of folates into cells and across epithelia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836604

5 June 2018

Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836604

5 June 2018

Membrane transporters and folate homeostasis: intestinal absorption and transport into systemic compartments and tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836604

5 June 2018

Technical and biochemical factors affecting cerebrospinal fluid 5-MTHF, biopterin and neopterin concentrations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836604

5 June 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=3836604

5 June 2018

Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836604

5 June 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=3836604

5 June 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=3836604

5 June 2018

Analysis of 5-methyltetrahydrofolate in serum of healthy children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3836604

17 August 2018

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/23816405

12 December 2020

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Identifiers

10.1016/J.GENE.2013.06.039

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

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