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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
F, Van Hoof +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
F, Van Hoof +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.
A, Drash, J, Field
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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.
A, Drash, J, Field
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Acta Diabetologica Latina, 1969
The pathways of glycogen synthesis and degradation have been reviewed in relation to the glycogen storage diseases. Six types of glycogen storage diseases have been classified on the basis of the enzymatic defect which is present. The clinical features, physical findings and laboratory abnormalities present in each type have been discussed and related ...
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The pathways of glycogen synthesis and degradation have been reviewed in relation to the glycogen storage diseases. Six types of glycogen storage diseases have been classified on the basis of the enzymatic defect which is present. The clinical features, physical findings and laboratory abnormalities present in each type have been discussed and related ...
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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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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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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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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 ...
Christian J. Hendriksz, Paul Gissen
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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 ...
Christian J. Hendriksz, Paul Gissen
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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, L. Emmett Holt
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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, L. Emmett Holt
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