Results 21 to 30 of about 130,693 (343)
Педиатрическая фармакология, 2020 Glycogen storage disease is the hereditary carbohydrate metabolism pathology which is caused by mutations in various genes encoding enzymes responsible for glycogenesis and glycogenolysis. Excessive glycogen deposition in various tissues cells (mostly in
Alexander A. Baranov +7 more
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Patients with glycogen storage diseases undergoing anesthesia: a case series
BMC Anesthesiology, 2017 Background Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degradation, or metabolism regulation. When these patients are subjected to anesthesia, perioperative complications can develop, including hypoglycemia, rhabdomyolysis,
Carmelina Gurrieri +3 more
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History of glycogen storage disease type Ⅱ
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Glycogen storage disease type Ⅱ (GSD Ⅱ), which is also called Pompe disease, is an autosomal recessive hereditary metabolic disease resulting from mutations of acid α-glucosidase (GAA).
Cheng ZHANG, Liang WANG
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Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs
Nutrients, 2021 Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney ...
T. Derks +14 more
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Nature Communications, 2021 Glycogen Storage Disease 1a (GSD1a) is a rare, inherited metabolic disorder caused by deficiency of glucose 6-phosphatase (G6Pase-α). G6Pase-α is critical for maintaining interprandial euglycemia.
Jingsong Cao +39 more
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Italian Journal of Pediatrics, 2021 Background Besides major clinical/biochemical features, neutropenia and inflammatory bowel disease (IBD) constitute common complications of Glycogen storage disease type Ib (GSD Ib). However, their management is still challenging.
A. Rossi +11 more
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Ketotic hypoglycemia in patients with Down syndrome
JIMD Reports, 2021 Background Ketotic hypoglycemia (KH) without an identifiable underlying metabolic or hormonal disease is historically named idiopathic KH. The prevalence is unknown, but idiopathic KH is considered the most frequent cause of hypoglycemia beyond the ...
Danielle Drachmann +4 more
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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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Molecular Genetics and Metabolism Reports, 2021 Introduction A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients
Ghada Hijazi +12 more
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The Phenotypic and Genetic Spectrum of Glycogen Storage Disease Type VI
Genes, 2021 Glycogen storage disease type VI (GSD VI) is an autosomal recessive disorder of glycogen metabolism due to mutations in the glycogen phosphorylase gene (PYGL), resulting in a deficiency of hepatic glycogen phosphorylase.
S. Grünert +2 more
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