Results 11 to 20 of about 130,693 (343)

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   +3 more sources

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

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   +3 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   +4 more sources

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

A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT

İstanbul Tıp Fakültesi Dergisi, 2021
Glycogen-storage disease type 0A is a rare autosomal recessively inherited disease resulting from a hepatic glycogen synthase enzyme deficiency.
Meryem Karaca, Halil Aslan
doaj   +2 more sources

Hepatic Glycogen Storage Diseases

Journal of Inborn Errors of Metabolism and Screening, 2017
The third international meeting of the Scandinavian Association for Glycogen Storage Disease focused on hepatic glycogen storage disease and was organized for health-care professionals, patient representatives, and representatives from the industry. This
Terry G. J. Derks MD, PhD, Antal Nemeth MD, PhD, Katrin Adrian MD, PhD, Henrik Arnell MD, PhD, Ann Bech Roskjær RD, Eva Beijer MD, Sebastiaan te Boekhorst BICT, Carina Heidenborg RD, Marcus Landgren MD ,PhD, Mikael Nilsson RD, Domniki Papadopoulou MD, Katalin Ross RD, Elisabeth Sjöqvist RD, U Stachelhaus-Theimer MD, Ulrike Steuerwald MD, Carl-Johan Törnhage MD, PhD, David A. Weinstein MD, PhD   +16 more
doaj   +2 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, Andrea Lim, Xiao-Hui Liao
exaly   +2 more sources

Small molecule inhibition of glycogen synthase I for the treatment of Pompe disease and other glycogen storage disorders

Science Translational Medicine
Glycogen synthase 1 (GYS1), the rate-limiting enzyme in muscle glycogen synthesis, plays a central role in energy homeostasis and has been proposed as a therapeutic target in multiple glycogen storage diseases. Despite decades of investigation, there are
J. Ullman, Kevin T. Mellem, Yannan Xi, Vyas Ramanan, H. Merritt, Rebeca Choy, Tarunmeet Gujral, L. Young, Kerrigan Blake, S. Tep, J. Homburger, Adam O’Regan, S. Ganesh, Perryn Wong, Terrence F. Satterfield, Baiwei Lin, Eva Situ, Cecile Yu, Bryan Espanol, Richa Sarwaikar, Nathan Fastman, Christos Tzitzilonis, Patrick Lee, Daniel Reiton, V. Morton, Pam Santiago, Walter S. Won, Hannah Powers, Beryl B Cummings, Maarten Hoek, Robert R. Graham, S. Chandriani, R. Bainer, A. DePaoli-Roach, Peter J. Roach, Thomas D. Hurley, Ramon C. Sun, Matthew S. Gentry, C. Sinz, Ryan A Dick, S. Noonberg, David T Beattie, David J. Morgans Jr., Eric M. Green   +43 more
semanticscholar   +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

Current Clinical Guidelines for the Management of Patients with Glycogen Storage Disease

Педиатрическая фармакология
Glycogen storage disease refers to hereditary pathologies of carbohydrate metabolism, its cause is mutations of various genes encoding enzymes responsible for the synthesis and breakdown of glycogen.
Natalia A. Averkina, Madlena E. Bagaeva, Aleksander A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Olga S. Gundobina, Nataliya V. Zhurkova, Elena V. Kaitukova, Elena V. Komarova, Tea V. Margieva, Leyla S. Namazova-Baranova, Valeria P. Novikova, Elena E. Petryaykina, Mariya M. Platonova, Aleksander S. Potapov, Olga Ya. Smirnova, Tatiana V. Strokova, Andrey N. Surkov, Nataliya N. Taran, Marina V. Fedoseenko, Nataliya A. Semenova, Inga V. Anisimova, Svetlana A. Repina, Dmitriy M. Subbotin, Valeria V. Sviridova, Anatoliy I. Havkin, Ekaterina A. Yablokova, Galina V. Volynets, Irina V. Sadovnikova, Elena L. Tumanova   +29 more
doaj   +2 more sources