(Q34194712)

31 July 2017

title

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

1 reference

31 July 2017

main subject

glycogen storage disease

1 reference

Lei KJ

1

1 reference

31 July 2017

Shelly LL

2

1 reference

31 July 2017

Lin B

3

1 reference

31 July 2017

Sidbury JB

4

1 reference

31 July 2017

Chen YT

5

1 reference

31 July 2017

Nordlie RC

6

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31 July 2017

Chou JY

7

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31 July 2017

language of work or name

English

0 references

publication date

1 January 1995

1 reference

Journal of Clinical Investigation

31 July 2017

published in

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31 July 2017

volume

95

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31 July 2017

issue

1

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31 July 2017

page(s)

234-240

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

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295414

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295414

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295414

The detection and classification of membrane-spanning proteins.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295414

Stabilization of glucose-6-phosphatase activity by a 21 000-dalton hepatic microsomal protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295414

Glucose-6-phosphatase: two concepts of membrane-function relationship

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295414

Diagnosis of a novel glycogen storage disease: type 1aSP

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295414

Molecular pathology of glucose-6-phosphatase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295414

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295414

Deoxycytidine methylation and the origin of spontaneous transition mutations in mammalian cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295414

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295414

Evidence for changes in the conformational status of rat liver microsomal glucose-6-phosphate:phosphohydrolase during detergent-dependent membrane modification. Effect of p-mercuribenzoate and organomercurial agarose gel on glucose-6-phosphatase of

28 October 2018

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

Neutropenia and impaired neutrophil migration in type IB glycogen storage disease

1 reference

12 December 2020

Type Ic, a novel glycogenosis. Underlying mechanism

1 reference

12 December 2020

The purification of a detergent-soluble glucose-6-phosphatase from rat liver

1 reference

12 December 2020

A new microtechnique for the analysis of the human hepatic microsomal glucose-6-phosphatase system

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI117645

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31 July 2017

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31 July 2017

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