Glycogen storage diseases: new perspectives (Q34098766)

31 July 2017

1 reference

title

Glycogen storage diseases: new perspectives (English)

1 reference

31 July 2017

Hasan Ozen

1

1 reference

PubMed ID

17552001

31 July 2017

language of work or name

English

0 references

publication date

1 May 2007

1 reference

World Journal of Gastroenterology

31 July 2017

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31 July 2017

13

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31 July 2017

2541-2553

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31 July 2017

18

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Infantile Hypoglycaemia due to Inherited Deficiency of Glycogen Synthetase in Liver

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Glycogen storage disease types I and II: treatment updates

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Enzymatic studies of hepatic fragments; application to the classification of glycogenoses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Familial cirrhosis of the liver with storage of abnormal glycogen

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Radical trapping in glycogen storage disease 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=4146814

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Molecular characterization of glycogen storage disease type III.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Glycogen and its Metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

The glucose-6-phosphatase system

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Identification of two subtypes of infantile acid maltase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Liver transplantation for glycogen storage disease types I, III, and IV

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Uncooked cornstarch--efficacy in type I glycogenosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Genetic deficiencies of the glycogen phosphorylase system

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Glycogen storage disease I and hepatocellular tumours

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Glycogen storage disease in adults

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

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=4146814

Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Childhood acid maltase deficiency. A clinical, biochemical, and morphologic study of three patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Glycogen storage disease type IX: Benign glycogenosis of liver and hepatic phosphorylase kinase deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Acute renal failure in McArdle's disease. Report of two cases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Hepatorenal glycogenosis (type I glycogenosis) and carcinoma of the liver.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Functional differentiation of glycogenoses of the liver with respect to the use of glycerol.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like 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=4146814

A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Phosphorylase b kinase deficiency in man: a review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Liver transplantation for type IV glycogen storage disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Hereditary branching enzyme dysfunction in adult polyglucosan body disease: A possible metabolic cause in two patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

A mild juvenile variant of type IV glycogenosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Defect of platelet function associated with chronic hypoglycaemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Nervous system involvement in type IV glycogenosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

On the involvement of a glucose 6-phosphate transport system in the function of microsomal 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=4146814

Disordered intestinal function in glycogen storage disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Renal tranplantation in type 1 glycogenosis. Failure to improve glucose metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Scintigraphic abnormalities in glycogen storage disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Renal sonographic findings of type I glycogen storage disease in infancy and early childhood

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblings.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Ramipril treatment in a patient with glycogen storage disease I non-A.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Utilization of cornstarch in glycogen storage disease type Ia.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Plasma antioxidants in pediatric patients with glycogen storage disease, diabetes mellitus, and hypercholesterolemia.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Serum biotinidase activity in children with chronic liver disease and its clinical significance

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Glycogen storage disease type Ib without neutropenia.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Three consecutive pregnancies in a patient with glycogen storage disease type IA (von Gierke's disease).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

An adult case of Andersen's disease--Type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution1H NMR spectroscopy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Long-term follow-up of a new case of liver glycogen synthase deficiency

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Outcome of living donor liver transplantation for glycogen storage disease

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4146814

Inflammatory bowel disease in glycogen storage disease type Ib

28 October 2018

1 reference

12 December 2020

Hepatoblastoma in infant sisters

1 reference

12 December 2020

A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1

1 reference

12 December 2020

1 reference

12 December 2020

Histologic features of the liver in type Ia glycogen storage disease: comparative study between different age groups and consecutive biopsies

1 reference

12 December 2020

Renal complications in glycogen storage disease type I

1 reference

12 December 2020

Intestinal function in glycogen storage disease type I

1 reference

12 December 2020

Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2)

1 reference

12 December 2020

Improvement of muscle function in acid maltase deficiency by high-protein therapy

1 reference

12 December 2020

Glycogen storage disease type Ia: frequency and clinical course in Turkish children

1 reference

12 December 2020

Brain damage in glycogen storage disease type I

1 reference

12 December 2020

Glycogenosis IV: A new cause of infantile hypotonia

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

Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes

1 reference

12 December 2020

A diagnostic protocol for adult-onset glycogen storage disease type II

1 reference

12 December 2020

Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia

1 reference

12 December 2020

Short-term effect of captopril on microalbuminuria in children with glycogen storage disease type Ia

1 reference

12 December 2020

Fetal type IV glycogen storage disease: clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family

1 reference

12 December 2020

Impaired monocyte function in glycogen storage disease type Ib

1 reference

12 December 2020

Plasma creatine kinase and cardiomyopathy in glycogen storage disease type III

1 reference

12 December 2020

Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia

1 reference

12 December 2020

Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation

1 reference

12 December 2020

Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia

1 reference

12 December 2020

Two clinical forms of glycogen-storage disease type II in two generations of the same family

1 reference

12 December 2020

Molecular Genetics of Type 1 Glycogen Storage Diseases

1 reference

12 December 2020

Glycogenosis due to liver and muscle phosphorylase kinase deficiency

1 reference

12 December 2020

Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings

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

Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis)

1 reference

12 December 2020

Facial appearance in glycogen storage disease type III

1 reference

12 December 2020

Fanconi-Bickel syndrome

1 reference

12 December 2020

Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch

1 reference

12 December 2020

Glycogen storage disease type 1b: microsomal glucose-6-phosphatase system in two patients with different clinical findings

1 reference

12 December 2020

Glycogen debranching enzyme deficiency: Long‐term study of serum enzyme activities and clinical features

1 reference

12 December 2020

Continuous nocturnal intragastric feeding for management of type 1 glycogen-storage disease

1 reference

12 December 2020

Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene

1 reference

12 December 2020

Glycogen storage disease type Ib without hypoglycemia

1 reference

12 December 2020

Hepato-renal glycogenosis with complex tubulopathy. 2. Cases of a new entity

1 reference

12 December 2020

Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy

1 reference

12 December 2020

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands

1 reference

12 December 2020

Cardiac involvement in glycogen storage disease type III

1 reference

12 December 2020

Molecular prenatal diagnosis of glycogen storage disease type Ia

1 reference

12 December 2020

Hepatic ultrasound findings in the glycogen storage diseases

1 reference

12 December 2020

High biotinidase activity in type Ia glycogen storage disease

1 reference

12 December 2020

Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease

1 reference

12 December 2020

Severe cardiopathy in branching enzyme deficiency

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

Glucose-6-phosphatase in normal adult human intestinal mucosa

1 reference

12 December 2020

Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Glucose-6-phosphatase of the liver in glycogen storage disease

1 reference

12 December 2020

A genetic linkage map of chromosome 17

1 reference

12 December 2020

Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms

1 reference

12 December 2020

Glycogen storage disease type IV presenting as hydrops fetalis

1 reference

12 December 2020

Cornstarch therapy in type I glycogen-storage disease

1 reference

12 December 2020

Renal disease in type I glycogen storage disease

1 reference

12 December 2020

The Subgroups of Type III Glycogenosis

1 reference

12 December 2020

Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia

1 reference

12 December 2020

Alpha-glucosidase deficiency and basilar artery aneurysm: report of a sibship

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.3748/WJG.V13.I18.2541

1 reference

31 July 2017

1 reference

31 July 2017

1 reference

PubMed ID

17552001