Glucose-6-phosphatase deficiency (Q21202870)

18 August 2022

Roseline Froissart

1

Roseline

Froissart

1 reference

18 August 2022

Monique Piraud

2

Monique

Piraud

1 reference

18 August 2022

Alix Mollet Boudjemline

3

Alix Mollet

Boudjemline

1 reference

18 August 2022

Christine Vianey-Saban

4

Christine

Vianey-Saban

1 reference

18 August 2022

Aurélie Hubert-Buron

6

Aurélie

Hubert-Buron

1 reference

18 August 2022

Pascale Trioche Eberschweiler

7

Pascale Trioche

Eberschweiler

1 reference

18 August 2022

Vincent Gajdos

8

Vincent

Gajdos

1 reference

18 August 2022

Philippe Labrune

9

Philippe

Labrune

1 reference

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

20 May 2011

5 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

5 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

6

0 references

issue

1

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page(s)

27

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copyright license

Creative Commons Attribution 2.0 Generic

5 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

on focus list of Wikimedia project

25 April 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/1750-1172-6-27

0 references

cites work

A syndrome with congenital neutropenia and mutations in G6PC3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

The glucose-6-phosphatase system

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Glycogen storage disease in adults

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Antibodies to CBir1 are associated with glycogen storage disease type Ib.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Oxidative stress mediates nephropathy in type Ia glycogen storage disease.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Neutropenia in type Ib glycogen storage disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Liver transplantation for glycogen storage disease type Ia.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Emerging therapies for glycogen storage disease type I.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Vascular dysfunction in glycogen storage disease type I

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Liver transplantation in children with glycogen storage disease: controversies and evaluation of the risk/benefit of this procedure

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Pregnancies in glycogen storage disease type Ia.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Bone marrow transplantation in glycogen storage disease type 1b.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Neutrophilia and elevated serum cytokines are implicated in glycogen storage disease type Ia.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Usefulness of chemical-shift MRI in discriminating increased liver echogenicity in glycogenosis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Gene therapy for type I glycogen storage diseases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Mutation spectrum of type I glycogen storage disease in Hungary.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Hepatocellular carcinoma in glycogen storage disease type Ia: a case series

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

A novel role for glucose 6-phosphatase in the small intestine in the control of glucose homeostasis.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I).

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Contraception and pregnancy in women affected by glycogen storage diseases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Association of glycogen storage disease 1b and Crohn disease: results of a North American survey

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Disturbed lipid metabolism in glycogen storage disease type 1.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Glycogen storage disease type I: indications for liver and/or kidney transplantation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

The muscle-bone relationship: methods and management - perspectives in glycogen storage disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Glycogen storage disease type I: pathophysiology of liver adenomas

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Historical highlights and unsolved problems in glycogen storage disease type 1.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Decreased urinary citrate excretion in type 1a glycogen storage disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

New lessons in the regulation of glucose metabolism taught by the glucose 6-phosphatase system

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Glycogen storage disease I and hepatocellular tumours

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Bone mineralisation in type 1 glycogen storage disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Hyperuricemia in glycogen storage disease type I. Contributions by hypoglycemia and hyperglucagonemia to increased urate production

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Bullous Sweet's syndrome in congenital neutropenia: association with pegfilgrastim

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Severe pulmonary arterial hypertension in type 1 glycogen storage disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Radical trapping in glycogen storage disease 1a.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Type I glycogen storage disease: favourable outcome on a strict management regimen avoiding increased lactate production during childhood and adolescence

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Prenatal diagnosis of glycogen storage disease type 1a by direct mutation detection

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Long-term course of hepatic glycogenosis. A retrospective study of 76 cases

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth.

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Stone forming risk factors in patients with type Ia glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Glycogen storage disease type Ib without neutropenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

A glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Deletion of the gene encoding the ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein (UGRP)/glucose-6-phosphatase catalytic subunit-beta results in lowered plasma cholesterol and elevated glucagon.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

A novel starch for the treatment of glycogen storage diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Clinical evaluation of a portable lactate meter in type I glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Respiratory distress and sudden death of a patient with GSDIb chronic neutropenia: possible role of pegfilgrastim

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Living donor liver transplantation for glycogen storage disease type Ib.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Long-term results of living donor liver transplantation for glycogen storage disorders in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Successful staged kidney and liver transplantation for glycogen storage disease type Ib: A case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Genotype–phenotype correlation in hepatocellular adenoma: New classification and relationship with HCC

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Mutation analysis in glycogen storage disease type 1 non-a

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-27

Hepatocyte transplantation for glycogen storage disease type Ib.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Liver and liver cell transplantation for glycogen storage disease type IA.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3118311

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=3118311

Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene

29 November 2018

1 reference

12 December 2020

Is glycogen storage disease 1a associated with atherosclerosis?

1 reference

12 December 2020

Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib

1 reference

12 December 2020

Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia

1 reference

12 December 2020

Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I

1 reference

12 December 2020

Chronic pancreatitis in a child with glycogen storage disease type 1

1 reference

12 December 2020

Increased scavenger receptor class B type I-mediated cellular cholesterol efflux and antioxidant capacity in the sera of glycogen storage disease type Ia patients

1 reference

12 December 2020

Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype

1 reference

12 December 2020

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

1 reference

12 December 2020

Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter

1 reference

12 December 2020

Type Ic, a novel glycogenosis. Underlying mechanism

1 reference

12 December 2020

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I

1 reference

12 December 2020

Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study

1 reference

12 December 2020

Glucose-6-phosphatase gene mutations in 20 adult Japanese patients with glycogen storage disease type 1a with reference to hepatic tumors

1 reference

12 December 2020

Glycogen storage disease type Ib without hypoglycemia

1 reference

12 December 2020

Hepatocellular adenomas: magnetic resonance imaging features as a function of molecular pathological classification

1 reference

12 December 2020

Molecular prenatal diagnosis of glycogen storage disease type Ia

1 reference

12 December 2020

Type I glycogen storage disease with focal nodular hyperplasia of the liver and vasoconstrictive pulmonary hypertension

1 reference

12 December 2020

Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1

1 reference

12 December 2020

Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia

1 reference

12 December 2020

Simultaneous liver-kidney transplantation for glycogen storage disease type IA (von Gierke's disease)

1 reference

12 December 2020

Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas

1 reference

12 December 2020

Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells

1 reference

12 December 2020

Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients

1 reference

12 December 2020

Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population

1 reference

12 December 2020

A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

1 reference

12 December 2020

The long-term outcome of patients with glycogen storage disease type Ia

1 reference

12 December 2020

Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-6-27

0 references