Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. (Q33802779)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10609121%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

review article

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title

Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10609121%20AND%20SRC:MED&resulttype=core&format=json

glycogen metabolic process

2 November 2019

main subject

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2

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2 November 2019

author name string

J I Wolfsdorf

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10609121%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

D A Weinstein

series ordinal

3

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2 November 2019

publication date

1 December 1999

1 reference

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Endocrinology and Metabolism Clinics of North America

2 November 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10609121%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

28

1 reference

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2 November 2019

issue

4

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2 November 2019

page(s)

801-823

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10609121%20AND%20SRC:MED&resulttype=core&format=json

The serum apolipoprotein profile of patients with glucose-6-phosphatase deficiency

2 November 2019

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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

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

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Value of the glucagon test in screening for hepatic glycogen storage disease

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

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Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia

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Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver

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A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a

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Chronic pancreatitis in a child with glycogen storage disease type 1

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Pulmonary hypertension in glycogen storage disease type I

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A case of glycogen storage disease type III (glycogen debranching enzyme deficiency) with liver cirrhosis and hypertrophic cardiomyopathy

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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

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

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Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency

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7 January 2021

The Human Liver Glycogen Synthase Isozyme Gene Is Located on the Short Arm of Chromosome 12

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7 January 2021

Progressive pulmonary hypertension: a fatal complication of type I glycogen storage disease

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Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers

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Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy

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

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Transmembrane topology of glucose-6-phosphatase

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Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies

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Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab

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Hepatic adenoma: MR characteristics and correlation with pathologic findings

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Roentgenographic skeletal changes in the glycogen storage diseases

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Renal function and kidney size in glycogen storage disease type I.

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Renal complications in glycogen storage disease type I

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

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7 January 2021

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

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7 January 2021

Inflammatory bowel disease in glycogen storage disease type Ib

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7 January 2021

Management of hepatic adenoma in glycogen storage disease Ia

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7 January 2021

Oral manifestations in glycogen storage disease type 1b

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7 January 2021

Chronic inflammatory bowel disease in glycogen storage disease type 1B

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7 January 2021

Glycogen storage disease type Ib.

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7 January 2021

Glucose-6-phosphate: a key compound in glycogenosis I and favism leading to hyper- or hypolipidaemia

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7 January 2021

Odd forms of inflammatory bowel disease: What can they tell us?

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7 January 2021

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

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7 January 2021

Amino acid disturbances in type III glycogenosis: Differences from type I glycogenosis

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7 January 2021

Reversal of debrancher deficiency myopathy by the use of high-protein nutrition.

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7 January 2021

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

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7 January 2021

The dietary treatment of children with type I glycogen storage disease with slow release carbohydrate.

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7 January 2021

Pathologic studies of the osteoporosis of Von Gierke's disease (glycogenosis 1a)

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7 January 2021

Glycogen storage disease type III associated with ventricular tachycardia

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7 January 2021

Glycogen storage disease in adults

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The Subgroups of Type III Glycogenosis

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

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7 January 2021

A direct method for the diagnosis of human hepatic type 1b and type 1c glycogen-storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

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

1 reference

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7 January 2021

The identification of T2; the phosphate/pyrophosphate transport protein of the hepatic microsomal glucose-6-phosphatase system

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

Identification and characterization of a hepatic microsomal glucose transport protein. T3 of the glucose-6-phosphatase system?

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

Cloning and expression of a hepatic microsomal glucose transport protein. Comparison with liver plasma-membrane glucose-transport protein GLUT 2

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

Inflammatory bowel disease in glycogen storage disease type Ib

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

Biochemical evidence for the requirement of continuous glucose therapy in young adults with type 1 glycogen storage disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

Optimal daytime feeding regimen to prevent postprandial hypoglycemia in type 1 glycogen storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

Glucose therapy for glycogenosis type 1 in infants: comparison of intermittent uncooked cornstarch and continuous overnight glucose feedings

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

Metabolic control and renal dysfunction in type I glycogen storage disease

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

Continuous glucose for treatment of patients with type 1 glycogen-storage disease: comparison of the effects of dextrose and uncooked cornstarch on biochemical variables

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

Physical growth and development of children with type 1 glycogen-storage disease: comparison of the effects of long-term use of dextrose and uncooked cornstarch.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

Assignment of the human glycogen debrancher gene to chromosome 1p21.

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

Renal lesion of type Ia glycogen storage disease: the glomerular size and renal localization of apolipoprotein

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0889-8529%2805%2970103-1

7 January 2021

10.1016/S0889-8529(05)70103-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10609121%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference