Results 1 to 10 of about 172,120 (351)

Liver Glycogen Phosphorylase Deficiency Leads to Profibrogenic Phenotype in a Murine Model of Glycogen Storage Disease Type VI

Hepatology Communications, 2019
Mutations in the liver glycogen phosphorylase (Pygl) gene are associated with the diagnosis of glycogen storage disease type VI (GSD‐VI). To understand the pathogenesis of GSD‐VI, we generated a mouse model with Pygl deficiency (Pygl−/−).
Lane H. Wilson, Jun‐Ho Cho, Ana Estrella, Joan A. Smyth, Rong Wu, Tayoot Chengsupanimit, Laurie M. Brown, David A. Weinstein, Young Mok Lee   +8 more
doaj   +2 more sources

LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]

Lancet, The, 1983
A 16½-year-old girl with type I glycogen storage disease was treated by orthotopic liver transplantation under cyclosporin/steroid immunosuppression. All metabolic stigmata of the disease were relieved and 1 year postoperatively she follows a normal diet
Alper, Alper Ca, Con, Folkman, Greene, Greene, Kashiwagi, Kashiwagi, Merrill, Nordlie, Raum, Starzl, Starzl, Starzl, Starzl, Starzl   +15 more
core   +3 more sources

A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia

Thyroid, 2019
Background: Glycogen storage disease type Ia (GSD Ia), also known as von Gierke disease, is the most common glycogen storage disorder. It is caused by the deficiency of glucose-6-phosphatase, the enzyme that catalyzes the final step of gluconeogenesis ...
Jin Zhou, Samuel Refetoff, Dwight D Koeberl   +2 more
exaly   +2 more sources

Glycogen storage disease type Ia with a 17-year history of renal involvement: a case report [PDF]

Journal of Medical Case Reports
Background Glycogen storage disease type Ia is a rare inherited metabolic disorder often accompanied by renal complications; however, the dynamic progression and its renal pathology remain poorly understood.
Minting Chen, Lubin Xu, Xiaoxiao Shi, Yubing Wen, Jie Ma, Rongrong Hu, Gang Chen   +6 more
doaj   +2 more sources

Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report

Journal of Medical Case Reports, 2017
Background Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare.
Aviva Cohn, Anupam Ohri
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

Clinical practice guidelines for Glycogen Storage Disease V & VII (McArdle disease and Tarui disease) from an international study group.

Neuromuscular Disorders, 2021
Alejandro Lucia a , b , Andrea Martinuzzi c , Gisela Nogales-Gadea d , Ros Quinlivan e , Stacey Reason f , ∗, on behalf of the International Association for Muscle Glycogen Storage Disease study group 1 a Faculty of Sports Sciences, Universidad Europea ...
A. Lucía, A. Martinuzzi, G. Nogales-Gadea, R. Quinlivan, S. Reason   +4 more
semanticscholar   +1 more source

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, David F. Rodriguez-Buritica, Ayesha Ahmad, F. de Boer, M. Couce, S. C. Grünert, P. Labrune, Nerea López Maldonado, Carolina Fischinger Moura de Souza, R. Riba-Wolman, A. Rossi, H. Saavedra, R. N. Gupta, V. Valayannopoulos, John J. Mitchell   +14 more
semanticscholar   +1 more source

mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease

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, Minjung Choi, E. Guadagnin, M. Soty, Marine Silva, Vincent Verzieux, Edward Weisser, Arianna Markel, Jenny Zhuo, Shi Liang, L. Yin, A. Frassetto, A. Graham, K. Burke, T. Ketova, C. Mihai, Zachary B. Zalinger, B. Levy, Gilles Besin, M. Wolfrom, B. Tran, C. Tunkey, Erik Owen, Joe Sarkis, A. Dousis, Vladimir Presnyak, Christopher S. Pepin, Wei Zheng, L. Ci, M. Hard, E. Miracco, L. Rice, Vi Nguyen, M. Zimmer, U. Rajarajacholan, P. Finn, G. Mithieux, F. Rajas, P. Martini, P. Giangrande   +39 more
semanticscholar   +1 more source

Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report

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, E. Miele, S. Fecarotta, M. Veiga-da-Cunha, M. Martinelli, C. Mollica, M. D'armiento, E. Mozzillo, P. Strisciuglio, T. Derks, A. Staiano, G. Parenti   +11 more
semanticscholar   +1 more source