(Q33781512)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20005757%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20005757%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

hereditary folate malabsorption

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20005757%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Eamonn R Maher

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20005757%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

author name string

Esther Meyer

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20005757%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Manju A Kurian

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20005757%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Shanaz Pasha

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20005757%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Trevor Cole

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20005757%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

publication date

16 November 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20005757%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

15 January 2020

published in

1 reference

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15 January 2020

volume

99

1 reference

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15 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20005757%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

page(s)

325-328

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20005757%20AND%20SRC:MED&resulttype=core&format=json

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

15 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852677

Genetic or nutritional disorders in homocysteine or folate metabolism increase protein N-homocysteinylation in mice

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852677

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852677

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852677

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852677

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852677

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852677

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852677

Physiology of folate and vitamin B12 in health and disease

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852677

Hereditary folate malabsorption: family report and review of the literature

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852677

10.1016/J.YMGME.2009.11.004

4 July 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20005757%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20005757%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

20005757

1 reference