Results 61 to 70 of about 6,242,042 (194)
A case of glycogen storage disease Type III
, 1996 Glycogen storage diseases (GSD) are hereditary metabolic disorders leading to the storage in cells of glycogen of normal or abnormal structure.
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, 2020 The present disclosure provides for compositions comprising a chimeric polypeptide comprising a polypeptide effective for treating glycogen storage disease and an internalizing moiety that promotes delivery into cells.
Armstrong, Dustin D, Armstrong, Daniel
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Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease [PDF]
, 2017 Introduction: Type III glycogen storage disease (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme.
Diana di Filippo +23 more
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Relationships between glycogen storage disease and tophaceous gout
, 1967 Two patients with glucose-6-phosphatase deficiency glycogen storage disease and tophaceous gout have been studied in an effort to establish the possible relationships between the primary defect in carbohydrate metabolism and their hyperuricemia and gouty
Alepa, F.Paul +3 more
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RESULTS OF LIFE QUALITY EVALUATION IN CHILDREN WITH HEPATIC VARIANT OF GLYCOGEN DISEASE
Педиатрическая фармакология, 2013 Glycogen storage disease (glycogenosis) is a common name for a group of hereditary diseases characterized by excessive accumulation of glycogen with normal or altered structure in various organs and tissues, most often – in liver and muscles.
A. N. Surkov +5 more
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LEUKOCYTE DEBRANCHING ENZYME IN GLYCOGEN STORAGE DISEASE
, 1962 In recent years the classification of glycogen storage disease has been based on the demonstration of a specific enzyme defect for each type (1-4). Type I, glycogenosis or von Gierke's disease, results from the lack of glucose 6-phosphatase (1 ...
E. Williams, Esther M. Kendig, James B
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Turkish Journal of Nephrology, 2019 Type 1 glycogen storage disease is caused by glucose-6-phosphatase deficiency and nephrolithiasis is the most common renal complication. Although urate stones are the most common stone type, metabolic alterations favoring calcium nephrolithiasis has also
Yeşim ÖZTÜRK +5 more
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Acute Renal Failure Requiring Renal Replacement Therapy Due to McArdle Disease
Turkish Journal of Nephrology, 2019 McArdle Disease (Glycogen Storage Disorder Type V) is one of the most common inherited genetic alterations known to increase the risk of rhabdomyolysis.
Hasan ERGENÇ +3 more
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Glycogen synthase 1 (GYS1), the rate-limiting enzyme in muscle glycogen synthesis, plays a central role in energy homeostasis and has been proposed as a therapeutic target in multiple glycogen storage diseases. Despite decades of investigation, there are
Dick, Ryan A. +43 more
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