The gene for glycogen-storage disease type 1b maps to chromosome 11q23. (Q24538761)

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9 November 2019

title

The gene for glycogen-storage disease type 1b maps to chromosome 11q23 (English)

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9 November 2019

3

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9 November 2019

Eli Hershkovitz

9

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9 November 2019

author name string

Annabi B

1

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9 November 2019

Hiraiwa H

2

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9 November 2019

Lei KJ

4

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9 November 2019

Ubagai T

5

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9 November 2019

Polymeropoulos MH

6

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9 November 2019

Moses SW

7

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9 November 2019

Parvari R

8

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9 November 2019

Mandel H

10

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9 November 2019

Fryman M

11

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9 November 2019

Chou JY

12

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9 November 2019

language of work or name

English

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publication date

1 February 1998

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American Journal of Human Genetics

9 November 2019

published in

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volume

62

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9 November 2019

page(s)

400-405

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9 November 2019

issue

2

1 reference

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Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a

9 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

A new variant of glycogen storage disease Type I probably due to a defect in the glucose-6-phosphate transport system

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

Strategies for multilocus linkage analysis in humans

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

A metric map of humans: 23,500 loci in 850 bands

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

Defective neutrophil and monocyte functions in glycogen storage disease type Ib: a literature review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

Glycogen storage disease: recommendations for treatment

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

Pathophysiology and dietary treatment of the glycogen storage diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

Functional features of neutrophils induced by G-CSF and GM-CSF treatment: differential effects and clinical implications

27 September 2017

1 reference

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Glucose-6-phosphatase structure, regulation, and function: an update

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

Transverse topology of glucose-6-phosphatase in rat hepatic endoplasmic reticulum

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

Glycogen storage disease type Ib: infectious complications and measures for prevention

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

Evidence for the participation of independent translocation for phosphate and glucose 6-phosphate in the microsomal glucose-6-phosphatase system. Interactions of the system with orthophosphate, inorganic pyrophosphate, and carbamyl phosphate

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376902

Neutropenia and impaired neutrophil migration in type IB glycogen storage disease

29 November 2018

1 reference

12 December 2020

Type Ic, a novel glycogenosis. Underlying mechanism

1 reference

12 December 2020

A direct evidence for defect in glucose-6-phosphate transport system in hepatic microsomal membrane of glycogen storage disease type IB

1 reference

12 December 2020

MgATP-dependent glucose 6-phosphate-stimulated Ca2+ accumulation in liver microsomal fractions. Effects of inositol 1,4,5-trisphosphate and GTP

1 reference

12 December 2020

Treatment with lenograstim (glycosylated recombinant human granulocyte colony-stimulating factor) and orthotopic liver transplantation for glycogen storage disease type Ib

1 reference

12 December 2020

Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system

1 reference

12 December 2020

Identifiers

DOI

10.1086/301727

1 reference

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9 November 2019

1 reference

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9 November 2019

1 reference