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Glycogen Storage Diseases [PDF]
, 1995 Glycogen storage diseases (GSD) are caused by enzyme defects of glycogen degradation. Some enzyme defects cause glycogen storage in the liver due to the fact that the deficient enzyme is mainly localized in the liver. Some enzyme defects are localized in muscles, and some are more generalized.
Y.-T. Chen, J. Fernandes
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Diagnosis of glycogen storage disease
Journal of Inherited Metabolic Disease, 1990SummaryGlycogen storage diseases are associated with more than 15 different enzyme deficiencies and can be clinically divided mainly into two groups, those that affect primarily the liver and those that affect principally the muscle. In this report each glycogenosis has been clinically and biochemically documented and possibilities for an accurate and ...
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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.
Claudio Bruno, Salvatore DiMauro
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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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Glycogen Storage Disease in Adults
Annals of Internal Medicine, 1994To identify complications amenable to prevention in adults with glycogen storage disease (GSD) types Ia, Ib, and III and to determine the effect of the disease on social factors.Case series and clinical review.Referral medical centers in the United States and Canada.All patients with GSD-Ia (37 patients), GSD-Ib (5 patients), and GSD-III (9 patients ...
Boris Senior +16 more
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Glycogen Storage Disease of the Myocardium
Diseases of the Chest, 1957Abstract 1.A case of glycogen storage disease of the myocardium is presented with additional evidence of hepatic, renal and bladder involvement. The clinieal course and autopsy findings are described. 2.The glycogen storage diseases are now recognized as being manifestations of abnormal metabolism of glycogen.
John F. Briggs, William F. Mazzitello
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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 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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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 +2 more
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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 +2 more
semanticscholar +1 more source
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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