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Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scores. [PDF]
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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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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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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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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.
S, DiMauro, C, Bruno
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