Brain Damage in Glycogen Storage Disease Type I
Pediatric Neurology Briefs, 2004 The occurrence of brain damage in 19 patients (13 girls and 6 boys) with glycogen storage disease type I (GSDI) was evaluated at the Universita “Federico II”, Naples, Italy.
J Gordon Millichap
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Von Gierke Disease (Glycogen Storage Disease Type I) and Life-Threatening Abdominal Aortic Aneurysm: A Case Report of an Extremely Rare Condition [PDF]
Vascular Specialist International, 2023 Von Gierke disease, also known as glycogen storage disease type I, co-existent with an abdominal aortic aneurysm (AAA), is an extremely rare combination of diseases that requires challenging therapeutic measures.
Apostolos G. Pitoulias +5 more
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Fluorodeoxyglucose-positron emission tomography as a potential alternative tool for functional diagnosis of glycogen storage disease type I [PDF]
Radiology Case Reports, 2023 A 43-year-old woman with genetically confirmed glycogen storage disease type Ib was suspected to have left breast cancer. Fluorodeoxyglucose-positron emission tomography showed high fluorodeoxyglucose accumulation in the whole liver as well as left ...
Takeshi Sato, MD +6 more
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Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapies [PDF]
Pediatric Discovery, 2023 Glycogen storage disease type I (GSDI) is an inherited metabolic disorder characterized by a deficiency of enzymes or proteins involved in glycogenolysis and gluconeogenesis, resulting in excessive intracellular glycogen accumulation.
Jiamin Zhong +10 more
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Impact of glycogen storage disease type I on adult daily life: a survey [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprises a diet with defined carbohydrate
Sven F. Garbade +6 more
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Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients [PDF]
Frontiers in Pediatrics, 2020 Patients and Methods: A retrospective chart review of 32 GSD- I patients, followed at the American University of Beirut Medical Center, between 2007 and 2018 was conducted. Diagnosis was confirmed by enzymatic and/or genetic studies.
Bilal Aoun +5 more
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Liver transplantation in glycogen storage disease type I. [PDF]
Orphanet J Rare Dis, 2014 Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects in the glucose-6-transporter/glucose-6-phosphatase complex, which is essential in glucose homeostasis. Two types exist, GSDIa and GSDIb, each caused by different defects in the complex.
Boers SJ, Visser G, Smit PG, Fuchs SA.
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Growth impairment in glycogen storage disease type I versus types III/VI/IX: a cross-sectional study [PDF]
BMC PediatricsBackground Growth retardation is common in glycogen storage disease (GSD), though the relative contributions of hormonal and metabolic factors remain unclear.
Xiaohui Wu, Yueyu Sun, Min Yang
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Glycogen storage disease type I (GSD I) [PDF]
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2012 Review on Glycogen storage disease type I (GSD I), with data on clinics, and the genes involved.
Mollet, Boudjemline A +5 more
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Glycogen storage disease type I: clinical and laboratory profile
Jornal de Pediatria, 2014 OBJECTIVES: To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism.
Berenice L. Santos +7 more
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