Results 311 to 320 of about 74,859 (354)
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Gout and Glycogen Storage Disease
Annals of Internal Medicine, 1963Excerpt A brother and 2 sisters, known from childhood to have had glycogen storage disease of the liver (Von Gierke's disease), survived to adult life. The course of their disorder was followed.
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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 +3 more
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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 +3 more
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Glycogen storage disease of the liver
The Indian Journal of Pediatrics, 1958A case of Von Gierke’s disease with clinical features and investigations is described. The diagnosis, some theories of causation, and treatment are discussed.
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Current Paediatrics, 1997
The glycogen storage diseases (GSDs) are an heterogeneous group of inherited disorders of carbohydrate metabolism. The specific enzyme defects are welldefined and for some, current therapeutic interventions are relatively straightforward and effective.
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The glycogen storage diseases (GSDs) are an heterogeneous group of inherited disorders of carbohydrate metabolism. The specific enzyme defects are welldefined and for some, current therapeutic interventions are relatively straightforward and effective.
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Glycogen storage disease of the heart∗
The American Journal of Cardiology, 1965Abstract A case of a 4 1 2 month old male infant with glycogen storage disease of the heart is presented. This is the first one described in Mexico. The clinical findings, electrocardiogram and chest roentgenogram were briefly analyzed. With present knowledge, an accurate diagnosis of the disease can be made during life, mainly from the ...
Armando Ricalde +4 more
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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
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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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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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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 ...
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