Results 21 to 30 of about 74,859 (354)

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

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   +1 more source

Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease. [PDF]

PLoS ONE, 2013
Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid α-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease severity ranging from a rapidly progressive course that ...
Kristin M Taylor, Elizabeth Meyers, Michael Phipps, Priya S Kishnani, Seng H Cheng, Ronald K Scheule, Rodney J Moreland   +6 more
doaj   +1 more source

Systemic Emboli and Biventricular Hypertrophy Due to Glycogen Storage Disease: Clinical, Imaging, and Pathologic Predicament

Annals of Internal Medicine: Clinical Cases, 2023
Glycogen storage disease cardiomyopathy is being recognized increasingly as a mimicker of hypertrophic cardiomyopathy. It is important to diagnose these diseases, as there are prognostic and treatment ramifications.
Amirhossein Esmaeeli, Prashant Nagpal, Jefree J. Schulte, Sofia C. Masri, Peter S. Rahko   +4 more
doaj   +1 more source

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   +1 more source

Chimerism after Liver Transplantation for Type IV Glycogen Storage Disease and Type 1 Gaucher's Disease [PDF]

, 1993
Background: Liver transplantation for type IV glycogen storage disease (branching-enzyme deficiency) results in the resorption of extrahepatic deposits of amylopectin, but the mechanism of resorption is not known.
Adriana Zeevi, Anthony J. Demetris, Camillo Ricordi, David Van Thiel, Desnick RJ, Massimo Trucco, Mirjana Kocova, Neufeld EF, Noriko Murase, Paul I. Terasaki, Ross S. Kendall, Suzanne Ildstad, Thomas E. Starzl, William A. Rudert   +13 more
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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

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   +1 more source

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

Liver transplantation for type I and type IV glycogen storage disease [PDF]

, 1993
Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period.
A. G. Tzakis, AS Guerra, B Illingworth, B. I. Brown, BI Brown, BI Brown, BI Brown, CA Alper, D Raum, DA Merrill, E. Yunis, GA Bannayan, GB Reed, GM Greene, GT Cori, H Zellweger, HG Hers, HL Greene, IT Ferguson, JJ Malatack, JJ Siekierka, KR McMaster, MW Harding, N Kashiwagi, N Kashiwagi, R. S. Kendall, R. Selby, RC Nordlie, S Servidei, S. Todo, T Ishihara, T. E. Starzl, TE Starl, TE Starzl, TE Starzl, TE Starzl, TE Starzl, V Mazzaferro   +37 more
core   +1 more source