"Bull's eye" appearance of hepatocellular adenomas in patients with glycogen storage disease type I - atypical magnetic resonance imaging findings: Two case reports. [PDF]
World J Clin Cases, 2021 BACKGROUND Hepatocellular adenomas are rare tumors that can occur in patients with glycogen storage disease type I. CASE SUMMARY We herein report two cases of histologically proven hepatocellular adenomas in patients with glycogen storage disease type I.
Vernuccio F +5 more
europepmc +3 more sources
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
doaj +2 more sources
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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Hyperfiltration and renal disease in glycogen storage disease, type I [PDF]
Kidney International, 1989 A prospective study of 14 patients (ages 6 months to 33 years) with glycogen storage disease, Type I (GSD-I) was carried out in order to define the character and frequency of renal dysfunction. A marked increase in the glomerular filtration rate (GFR) was documented in virtually all subjects, with the mean GFR raised by approximately 50%, to the range ...
Joseph Egler +7 more
openaire +4 more sources
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
doaj +2 more sources
How could hypoglycemia-inducing glycogen storage disease lead to hyperglycemia-induced mucormycosis? [PDF]
Autopsy and Case Reports, 2020 Mucormycosis is an increasingly frequent, difficult to diagnose, difficult to treat, often fatal infection, especially in patients with hyperglycemia from uncontrolled diabetes.
Larry Nichols, Diana Alejandra Rios
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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
doaj +9 more sources
Platelet Dysfunction in Glycogen Storage Disease Type I [PDF]
Blood, 1973 Abstract A hemorrhagic tendency has been observed in patients with glycogen storage disease Type I (GSD-I). We have studied the hemostatic mechanism in six patients with GSD-I who have mild to severe bleeding tendencies. All exhibited abnormalities of platelet function (decreased prothrombin consumption, abnormal aggregation reactions ...
Emily E. Czapek +2 more
openalex +4 more sources
Gene Therapy for Type I Glycogen Storage Diseases [PDF]
Current Gene Therapy, 2007 The type I glycogen storage diseases (GSD-I) are a group of related diseases caused by a deficiency in the glucose-6-phosphatase-alpha (G6Pase-alpha) system, a key enzyme complex that is essential for the maintenance of blood glucose homeostasis between meals.
Janice Y. Chou, Brian C. Mansfield
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The Pathogenesis of Hyperuricemia in Glycogen Storage Disease, Type I [PDF]
Pediatric Research, 1977 After the infusion of fructose, 0.25 g/kg body weight, blood uric acid levels were significantly increased above the mean basal value in five patients with glycogen storage disease (GSD), type I (P less than 0.02-P less than 0.05). The mean fasting blood inorganic phosphate (Pi) level in the patients was 3.9 +/- 0.3 mg/100 ml and was significantly ...
Thomas F. Roe, Maurice D. Kogut
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