Results 211 to 220 of about 154,387 (257)
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Paediatrics and Child Health, 2011
Glycogen storage disorders are a group of inborn errors of metabolism characterized by accumulation of glycogen in various tissues. This accumulation is the histological hallmark of these disorders although the phenotype shows variable overlap. Hepatomegaly, hypoglycaemia, elevated lactate and urate with or without neutrophil dysfunction is the ...
Paul Gissen +3 more
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Glycogen storage disorders are a group of inborn errors of metabolism characterized by accumulation of glycogen in various tissues. This accumulation is the histological hallmark of these disorders although the phenotype shows variable overlap. Hepatomegaly, hypoglycaemia, elevated lactate and urate with or without neutrophil dysfunction is the ...
Paul Gissen +3 more
openaire +3 more sources
2000
The glycogen storage diseases are inherited inborn errors of metabolism that affect glycogen metabolism. They are numbered (I–VII) in the order that they were described, although there are several other metabolic disorders that also affect glycogen metabolism (1,2).
Ellen R. Elias, Mira Irons
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The glycogen storage diseases are inherited inborn errors of metabolism that affect glycogen metabolism. They are numbered (I–VII) in the order that they were described, although there are several other metabolic disorders that also affect glycogen metabolism (1,2).
Ellen R. Elias, Mira Irons
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2005
Abstract Glycogen storage diseases (GSDs) are inherited disorders that affect glycogen metabolism. The first clinical description of a patient with a defect in glycogen mobilization was published in 1928 by Snappes and Van Creveld. Today over 12 forms of GSD have been identified, with a wide spectrum of clinical presentations and an ...
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Abstract Glycogen storage diseases (GSDs) are inherited disorders that affect glycogen metabolism. The first clinical description of a patient with a defect in glycogen mobilization was published in 1928 by Snappes and Van Creveld. Today over 12 forms of GSD have been identified, with a wide spectrum of clinical presentations and an ...
openaire +1 more source
1990
Several inherited enzyme defects interfere with the degradation of glycogen and raise the glycogen content of the organ in which the enzyme is localized. Not only the site of the defective enzyme in the glycogenolytic pathway, but also its localization in various organs determines the symptomatology of the ensuing glycogen storage disease.
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Several inherited enzyme defects interfere with the degradation of glycogen and raise the glycogen content of the organ in which the enzyme is localized. Not only the site of the defective enzyme in the glycogenolytic pathway, but also its localization in various organs determines the symptomatology of the ensuing glycogen storage disease.
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Glycogen Storage Diseases [PDF]
Biochemical Society Transactions, 1974 François Van Hoof +4 more
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Glycogen as a Building Block for Advanced Biological Materials
Advanced Materials, 2020Francesca Cavalieri, Frank Caruso
exaly
Glycogen storage disease type VI: clinical course and molecular background
European Journal of Pediatrics, 2019T. Aeppli +4 more
semanticscholar +1 more source