(Q37433962)

20 August 2017

0 references

A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b (English)

1 reference

20 August 2017

glycogen storage disease

1 reference

Sung-Hee Han

1

1 reference

20 August 2017

Chang-Seok Ki

2

1 reference

20 August 2017

Ji-Eun Lee

3

1 reference

20 August 2017

Young-Jin Hong

4

1 reference

20 August 2017

Byong-Kwan Son

5

1 reference

20 August 2017

Kyung-Hee Lee

6

1 reference

20 August 2017

Yon-Ho Choe

7

1 reference

20 August 2017

Soo-Youn Lee

8

1 reference

20 August 2017

Jong-Won Kim

9

1 reference

20 August 2017

1 June 2005

1 reference

Journal of Korean Medical Science

20 August 2017

1 reference

20 August 2017

20

1 reference

20 August 2017

3

1 reference

20 August 2017

499-501

1 reference

Creative Commons Attribution-NonCommercial 3.0 Unported

20 August 2017

start time

1 January 2005

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782211

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782211

Molecular diagnosis of type 1c glycogen storage disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782211

Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782211

Structure of the gene mutated in glycogen storage disease type Ib.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782211

Structure and mutation analysis of the glycogen storage disease type 1b gene.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782211

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782211

Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782211

Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782211

Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782211

Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2782211

Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography

14 September 2017

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15953877

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Neutropenia and impaired neutrophil migration in type IB glycogen storage disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15953877

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3346/JKMS.2005.20.3.499

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

15953877

1 reference