Results 1 to 10 of about 26,544 (106)

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, Mikako Inokuchi, MD, PhD, Satsuki Nakano, MD, Yu Iwabuchi, MD, PhD, Tetsu Hayashida, MD, PhD, Tomohiro Ishii, MD, PhD, Tomonobu Hasegawa, MD, PhD   +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, Yannian Gou, Piao Zhao, Xiangyu Dong, Meichun Guo, Aohua Li, Ailing Hao, Hue H. Luu, Tong‐Chuan He, Russell R. Reid, Jiaming Fan   +10 more
doaj   +2 more sources

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, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas, Sarah C. Grünert   +6 more
doaj   +2 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, Sami Sanjad, Jad A. Degheili, Abir Barhoumi, Amina Bassyouni, Pascale E. Karam   +5 more
doaj   +2 more sources

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, Nizar Abu Bakr, Majid Kazemtash, Firouza Dahi, Michael Schütz, Konstantinos P. Donas   +5 more
doaj   +2 more sources

Genotype–phenotype spectrum and clinical outcomes of glycogen storage disease type I: A 15-year experience at Vietnam National Children's Hospital [PDF]

Molecular Genetics and Metabolism Reports
Background: Glycogen Storage Disease Type I (GSD I) is an inherited metabolic disorder characterized by impaired hepatic glucose production due to defects in gluconeogenesis and glycogenolysis.
Hang Thi Nguyen, Dung Chi Vu, Tung Viet Cao, Van Khanh Tran, Thao Phuong Bui, Ngoc Bich Thi Can, Lan Hoang Nguyen, Ngoc Lan Nguyen, Thinh Huy Tran, Nguyen Huu Tu, Le Thi Phuong, Khanh Ngoc Nguyen   +11 more
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Growth impairment in glycogen storage disease type I versus types III/VI/IX: a cross-sectional study [PDF]

BMC Pediatrics
Background 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
doaj   +2 more sources

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
doaj   +3 more sources

Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement [PDF]

Orphanet Journal of Rare Diseases, 2020
Background Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb).
Alessandro Rossi, Chiara Simeoli, Mariacarolina Salerno, Rosario Ferrigno, Roberto Della Casa, Annamaria Colao, Pietro Strisciuglio, Giancarlo Parenti, Rosario Pivonello, Daniela Melis   +9 more
doaj   +2 more sources

Pregnancy in a patient with glycogen storage disease type Ia (von Gierke disease): case report and management strategy [PDF]

AJOG Global Reports
Glycogen storage disease type I (GSDI) is caused by biallelic pathogenic variants in the gene encoding the glucose-6-phosphatase complex. Deficiency of this enzyme in the liver, kidneys, and intestines leads to glycogen accumulation in these organs and ...
Camila Andrea Camargo Rodríguez, MD, Cristian Rolando Avellaneda-Garnica, MD, Rafael Leonardo Aragón-Mendoza, MD, Yaisa Maritza Castaño Toro, MD, David Rodriguez Buritica, MD   +4 more
doaj   +2 more sources