Results 41 to 50 of about 67,076 (344)

Psychosocial Functioning in Youth with Glycogen Storage Disease Type I [PDF]

Journal of Pediatric Psychology, 2008
To assess the quality of life and psychosocial functioning among pediatric patients with Glycogen Storage Disease (GSD) types Ia and Ib.Thirty-one youth with GSD types Ia and Ib and 42 healthy controls participated. Quality of life ratings from the GSD types Ia and Ib sample were compared with a previously reported clinical comparison sample.
Eric A. Storch, Mary L. Keeley, Lisa J. Merlo, Marni L. Jacob, Catherine E. Correia, David A. Weinstein   +5 more
openalex   +5 more sources

Neurological Characteristics of Pediatric Glycogen Storage Disease

Frontiers in Endocrinology, 2021
Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. Hypoglycemia is the most common primary manifestation of GSD, and disturbances in glucose metabolism can cause neurological damage.
Julio Henrique Muzetti, Julio Henrique Muzetti, Julio Henrique Muzetti, Daniel Almeida do Valle, Daniel Almeida do Valle, Daniel Almeida do Valle, Mara L. S. Ferreira Santos, Bruno Augusto Telles, Mara L. Cordeiro, Mara L. Cordeiro, Mara L. Cordeiro   +10 more
doaj   +1 more source

Hyperammonemia associated with glycogen storage disease type I

The Turkish Journal of Pediatrics, 1982
M Tunçer, H Yalçin, I Ozalp, M Cağlar
doaj   +2 more sources

Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis

Annals of Hepatology, 2018
Glycogen storage disease type I and glycogenic hepatopathy are the most common type of primary and secondary hepatic glycogenosis, with presenting common radiological features of hepatomegaly, hepatic signal, or density change.
Zhi-yuan Chen, Yu-pin Liu, Guang-juan Zheng   +2 more
doaj   +1 more source

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

Diagnostics, 2021
Introduction: Glycogen storage disease type VI (GSD VI) is a disorder of glycogen metabolism due to mutations in the PYGL gene. Patients with GSD VI usually present with hepatomegaly, recurrent hypoglycemia, and short stature.
Sarah C. Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B. Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter   +8 more
doaj   +1 more source

Liver transplantation for type IV glycogen storage disease [PDF]

, 1991
TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis, Bannayan, Barbara I. Brown, Brown, Eduardo Yunis, Greene, Illingworth, Ishihara, Ishihara, Mazzaferro, McMaster, Reed, Rick Selby, Ross S. Kendall, Schochet, Stand, Starzl, Thomas E. Starzl   +17 more
core   +1 more source

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage [PDF]

, 2020
Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle.
Dellgren, Göran, Glamuzina, Emma, Hedberg-Oldfors, Carola, Hernandez-Lain, Aurelio, Kornblum, Cornelia, Oldfors, Anders, Roach, Peter, Sandstedt, Joakim, Tasca, Giorgio, Thomsen, Christer, Visuttijai, Kittichate   +10 more
core   +1 more source

Renal Function in Glycogen Storage Disease Type I, Natural Course, and Renopreservative Effects of ACE Inhibition

American Society of Nephrology. Clinical Journal, 2009
Daniëlle H. J. Martens, Jan Peter Rake, Gerjan Navis, V. Fidler, C. M. L. van Dael, Gerrit Smit   +5 more
openalex   +2 more sources

AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease [PDF]

, 2017
Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy.
Alvino, Filomena Grazia, Auricchio, Alberto, Ballabio, Andrea, Carrella, Alessandra, De Leonibus, Elvira, Diez-roux, Graciana, Gatto, Francesca, Iacobellis, Francesca, Nusco, Edoardo, Parenti, Giancarlo, Polishchuk, Elena, Polishchuk, Roman, Rossi, Barbara, Tarallo, Antonietta   +13 more
core   +1 more source

How could hypoglycemia-inducing glycogen storage disease lead to hyperglycemia-induced mucormycosis?

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
doaj   +1 more source