Results 301 to 310 of about 74,859 (354)
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Disease-a-Month, 1971
Summary In conclusion, the glycogen storage diseases represent a clinically heterogeneous group of disorders that usually become apparent in early infancy and reflect the consequences of a deficiency of enzymes essential for the normal synthesis and degradation of glycogen.
James B. Field, Allan L. Drash
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Summary In conclusion, the glycogen storage diseases represent a clinically heterogeneous group of disorders that usually become apparent in early infancy and reflect the consequences of a deficiency of enzymes essential for the normal synthesis and degradation of glycogen.
James B. Field, Allan L. Drash
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Current Paediatrics, 2004
Abstract The glycogen storage diseases (GSDs) are a large group of disorders that present in a variety of ways to paediatricians. Some of them primarily have problems with hepatic glucose production and its secondary consequences: hypoglycaemia, lactic acidosis, hepatomegaly (e.g. GSD I).
Philip J. Lee, Helen Mundy
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Abstract The glycogen storage diseases (GSDs) are a large group of disorders that present in a variety of ways to paediatricians. Some of them primarily have problems with hepatic glucose production and its secondary consequences: hypoglycaemia, lactic acidosis, hepatomegaly (e.g. GSD I).
Philip J. Lee, Helen Mundy
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2018
Glycogen storage diseases result from deficiencies of various enzymes or proteins in the pathways of glycogen metabolism. The reduction in effective glucose storage and/or mobilization results in hypoglycemia and accumulation of glycogen in tissues. Diagnosis can occur at any age, from infancy to adulthood, depending on the pathway affected and the ...
Tammy Nai-Yen Wang +2 more
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Glycogen storage diseases result from deficiencies of various enzymes or proteins in the pathways of glycogen metabolism. The reduction in effective glucose storage and/or mobilization results in hypoglycemia and accumulation of glycogen in tissues. Diagnosis can occur at any age, from infancy to adulthood, depending on the pathway affected and the ...
Tammy Nai-Yen Wang +2 more
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2010
Glycogen metabolism is regulated by a number of different enzymes, defects in any of which result in several types of glycogen storage disease. Types I, III, VI, and IX have predominantly hepatic manifestations: they typically present in infancy with failure to thrive and hepatomegaly, and they are associated with fasting hypoglycaemia ...
Philip Lee, Kaustuv Bhattacharya
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Glycogen metabolism is regulated by a number of different enzymes, defects in any of which result in several types of glycogen storage disease. Types I, III, VI, and IX have predominantly hepatic manifestations: they typically present in infancy with failure to thrive and hepatomegaly, and they are associated with fasting hypoglycaemia ...
Philip Lee, Kaustuv Bhattacharya
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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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Seminars in Hematology, 2002
Glycogen storage disease (GSD) is a rare autosomal-recessive disorder characterized by hypoglycemia, hepatosplenomegaly, seizures, and failure to thrive in infants. Neutropenia and/or neutrophil dysfunction develops in GSD1b, but not in other types. GSD1b results from a deficiency of the glucose-6-phosphate translocase enzyme and the genetic defect ...
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Glycogen storage disease (GSD) is a rare autosomal-recessive disorder characterized by hypoglycemia, hepatosplenomegaly, seizures, and failure to thrive in infants. Neutropenia and/or neutrophil dysfunction develops in GSD1b, but not in other types. GSD1b results from a deficiency of the glucose-6-phosphate translocase enzyme and the genetic defect ...
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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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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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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 [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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