(Q33777461)

29 July 2017

title

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations (English)

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29 July 2017

Kenichiro Yamada

1

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29 July 2017

Kiyokuni Miura

2

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29 July 2017

Kenju Hara

3

1 reference

29 July 2017

Motomasa Suzuki

4

1 reference

29 July 2017

Keiko Nakanishi

5

1 reference

29 July 2017

Toshiyuki Kumagai

6

1 reference

29 July 2017

Naoko Ishihara

7

1 reference

29 July 2017

Yasukazu Yamada

8

1 reference

29 July 2017

Ryozo Kuwano

9

1 reference

29 July 2017

Shoji Tsuji

10

1 reference

29 July 2017

Nobuaki Wakamatsu

11

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29 July 2017

publication date

22 December 2010

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29 July 2017

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29 July 2017

volume

11

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29 July 2017

page(s)

171

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-11-171

29 July 2017

exact match

0 references

cites work

Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022826

Thiamin uptake by the human-derived renal epithelial (HEK-293) cells: cellular and molecular mechanisms

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022826

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022826

SLC19: the folate/thiamine transporter family

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022826

SLC19A3 encodes a second thiamine transporter ThTr2

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022826

Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022826

Allegro, a new computer program for multipoint linkage analysis

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022826

Cloning of the human thiamine transporter, a member of the folate transporter family

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022826

Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022826

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022826

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022826

A novel cDNA restores reduced folate carrier activity and methotrexate sensitivity to transport deficient cells

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022826

Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3022826

Biotin-responsive basal ganglia disease: a novel entity

4 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-11-171

Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-11-171

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-11-171

21 January 2018

Identifiers

DOI

10.1186/1471-2350-11-171

1 reference

Dimensions Publication ID

29 July 2017

0 references

1 reference

29 July 2017

1 reference