Global ETD Search
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Showing 1 to 4 of 4 for “"glycogen storage disease"”.
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Metabolic Control, Quality of Life, and Body Image In Patients With Glycogen Storage Disease Type Ia
<p>Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary to an inability to properly break down …
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Determination of the frequency of four pathogenic variants causing inborn errors of metabolism in the western cape black population, using a multiplexed arms pcr approach
… c.189G>A(p.Trp62Ter) in the G6PC gene causing glycogen storage disease type 1a (GSD 1a), and c.159dupT(p.Asp54*) in the BOLA3 gene causing multiple mitochondrial dysfunction syndrome type 2 (MMDS 2). Analysing large population cohorts for all four variants individually is time-consuming and …
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Glucose-6-Phosphatase in Metabolic Disease and Cancer
… how discrete metabolic defects cause human disease. Glycogen Storage Disease Type 1a (GSD1a), or von Gierke's disease, is an autosomal recessive IEM caused by defects in Glucose-6-Phosphatase, Catalytic Subunit (G6PC), the terminal enzyme in both glycogenolysis and gluconeogenesis. Fasting …
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From cancer gene expression to protein interaction: Interaction prediction, network reasoning and applications in pancreatic cancer
… of markers or therapeutic targets of many diseases. In cancer research, a number of gene expression screens have been carried out to identify genes differentially expressed in cancerous tissue such as Pancreatic Ductal Adenocarcinoma (PDAC). PDAC carries very poor prognosis, it eludes early …