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Nature Reviews Disease Primers, 2023
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future ...
William B. Hannah +5 more
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Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future ...
William B. Hannah +5 more
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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
P. Jacquemin +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
P. Jacquemin +5 more
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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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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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Molecular diagnosis of glycogen storage disease type I: a review
EXCLI Journal : Experimental and Clinical Sciences, 2019Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease with variable clinical intensity. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal transport proteins for ...
Zahra Beyzaei, B. Geramizadeh
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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
openaire +2 more sources