Results 291 to 300 of about 130,693 (343)
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Biochimie, 1972
In glycogen storage diseases, there is insufficient use of glycogen resulting in glycogen buildup, or insufficient synthesis of glycogen. There are multiple types of glycogen storage diseases, which can be classified in hepatic and myopathic forms. Types I, III, IV, VI, and IX affect liver primarily. Glycogen storage diseases that also affect
F, Van Hoof +5 more
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In glycogen storage diseases, there is insufficient use of glycogen resulting in glycogen buildup, or insufficient synthesis of glycogen. There are multiple types of glycogen storage diseases, which can be classified in hepatic and myopathic forms. Types I, III, IV, VI, and IX affect liver primarily. Glycogen storage diseases that also affect
F, Van Hoof +5 more
openaire +2 more sources
Glycogen storage disease type VI: clinical course and molecular background
European Journal of Pediatrics, 2019 Glycogen storage disease type VI (GSD-VI; also known as Hers disease, liver phosphorylase deficiency) is caused by mutations in the gene coding for glycogen phosphorylase (PYGL) leading to a defect in the degradation of glycogen.
T. Aeppli +4 more
semanticscholar +2 more sources
European Journal of Pediatrics, 2002 Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series ofpatients and experience with long-term management and follow-up at each centre
Philippe Labrune +2 more
exaly +3 more sources
Cornstarch requirements of the adult glycogen storage disease Ia population: A retrospective review
Journal of Inherited Metabolic Disease, 2020Cornstarch has been the primary treatment for glycogen storage disease type Ia (GSD Ia) for over 35 years. When cornstarch was first described as a treatment, few people survived beyond early childhood.
K. R. Dahlberg +8 more
semanticscholar +1 more source
Acta Diabetologica Latina, 1969
The pathways of glycogen synthesis and degradation have been reviewed in relation to the glycogen storage diseases. Six types of glycogen storage diseases have been classified on the basis of the enzymatic defect which is present. The clinical features, physical findings and laboratory abnormalities present in each type have been discussed and related ...
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The pathways of glycogen synthesis and degradation have been reviewed in relation to the glycogen storage diseases. Six types of glycogen storage diseases have been classified on the basis of the enzymatic defect which is present. The clinical features, physical findings and laboratory abnormalities present in each type have been discussed and related ...
openaire +2 more sources
Glycogen storage diseases of muscle
Current Opinion in Neurology, 1998Ten specific enzyme defects of glycogen metabolism affect skeletal muscle alone or in combination with other tissues. The newest addition to this group of disorders is the defect of aldolase A (glycogenosis type XII), a block in terminal glycolysis associated with myopathy and a hemolytic trait.
S, DiMauro, C, Bruno
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2020
Abstract Glycogen is a highly branched glucose polymer with a compacted structure found predominantly in liver and muscle. Liver glycogen is important in the maintenance of euglycaemia during fasting; muscle glycogen is an immediate source of glucose for energy production during exercise.
Robin H. Lachmann, Timothy M. Cox
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Abstract Glycogen is a highly branched glucose polymer with a compacted structure found predominantly in liver and muscle. Liver glycogen is important in the maintenance of euglycaemia during fasting; muscle glycogen is an immediate source of glucose for energy production during exercise.
Robin H. Lachmann, Timothy M. Cox
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Blackwell's Five-Minute Veterinary Consult Clinical Companion, 2019
Glycogen storage diseases (GSDs) are inherited inborn errors of metabolism (IEM) involving carbohydrate metabolism. IEMs are often caused by single gene mutations that encode specific proteins: they are very relevant to pediatrics since these diseases ...
William L. Stone, Hajira Basit, A. Adil
semanticscholar +1 more source
Glycogen storage diseases (GSDs) are inherited inborn errors of metabolism (IEM) involving carbohydrate metabolism. IEMs are often caused by single gene mutations that encode specific proteins: they are very relevant to pediatrics since these diseases ...
William L. Stone, Hajira Basit, A. Adil
semanticscholar +1 more source
The Journal of Pediatrics, 1945
Summary Two cases of the hepatic form of glycogen storage disease (von Gierke's disease) have been studied in detail. Observations on liver slices freshly removed at biopsy have shown an abnormal stability of the glycogen, but a satisfactory glycogenolytic response was obtained upon admixture with fresh normal liver, confirming previous work that ...
Edward M. Bridge, L. Emmett Holt
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Summary Two cases of the hepatic form of glycogen storage disease (von Gierke's disease) have been studied in detail. Observations on liver slices freshly removed at biopsy have shown an abnormal stability of the glycogen, but a satisfactory glycogenolytic response was obtained upon admixture with fresh normal liver, confirming previous work that ...
Edward M. Bridge, L. Emmett Holt
openaire +1 more source