Skip to search formSkip to main contentSkip to account menu

Glycogen Storage Disease Type I

Known as: GSD Ia, HEPATORENAL GLYCOGENOSIS, disease glycogen i storage type 
An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose… 
National Institutes of Health

Related topics

Related topics

32 relations
Acidosis, LacticArthritis, GoutyAutosomal recessive inheritanceBleeding tendency

Broader (2)

Deficiency of glucose-6-phosphate dehydrogenaseGlycogen Storage Disease

Narrower (2)

Glucose-6-phosphate transport defectGlycogen storage disease type Ia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Thermal energy storage (TES) for industrial waste heat (IWH) recovery: A review
Review
2010
Review
2010
Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy
Glycogen storage disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in glucose-6-phosphatase-α (G6Pase-α) and… 
Highly Cited
2008
Highly Cited
2008
AtHMA3, a P1B-ATPase Allowing Cd/Zn/Co/Pb Vacuolar Storage in Arabidopsis1[W]
The Arabidopsis (Arabidopsis thaliana) Heavy Metal Associated3 (AtHMA3) protein belongs to the P1B-2 subgroup of the P-type… 
Review
2006
Review
2006
The adult form of Niemann-Pick disease type C.
Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from… 
Review
2002
Review
2002
Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I)
Abstract. Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that… 
Highly Cited
2000
Highly Cited
2000
Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I.
OBJECTIVE To investigate the incidence, the severity, and the course of neutropenia, neutrophil dysfunction, and inflammatory… 
Highly Cited
1995
Highly Cited
1995
Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
Von Hippel‐Lindau disease (VHL) is an inherited neoplastic disease characterized by a predisposition to develop retinal angiomas… 
Highly Cited
1984
Highly Cited
1984
Cornstarch therapy in type I glycogen-storage disease.
TYPE I glycogen-storage disease, an inherited absence or deficiency of glucose-6-phosphatase activity in the liver, kidney, and… 
Highly Cited
1981
Highly Cited
1981
Effect of extra-alveolar period and storage media upon periodontal and pulpal healing after replantation of mature permanent incisors in monkeys.
Highly Cited
1980
Highly Cited
1980
Additional factors influencing sensitivity in the tetramethyl benzidine method for horseradish peroxidase neurohistochemistry.
In experiments that use horseradish peroxidase (HRP) and tetramethyl benzidine (TMB) for tracing neural connections, the activity… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)