Results 41 to 50 of about 130,693 (343)

The potential of dietary treatment in patients with glycogen storage disease type IV

Journal of Inherited Metabolic Disease, 2020
There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV.
T. Derks, Fabian Peeks, F. de Boer, Marieke J. Fokkert-Wilts, H. P. van der Doef, Marius C. van den Heuvel, E. Szymańska, D. Rokicki, P. Ryan, D. Weinstein   +9 more
semanticscholar   +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

Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia

Molecular Genetics and Metabolism Reports, 2022
Although inflammatory bowel disease is a well-described feature of glycogen storage disease type Ib, it has been reported in only a small number of individuals with glycogen storage disease type Ia (GSDIa).
William B. Hannah, Ricardo C. Ong, Margarita Nieto Moreno, Surekha Pendyal, Monica Abdelmalak, Judith Kelsen, Nancy M. McGreal, Priya S. Kishnani   +7 more
doaj   +1 more source

Glycogen Storage Disease Type II

Definitions, 2020
An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the enzyme acid alpha-glucosidase. It results in the abnormal accumulation of glycogen in the heart, skeletal muscles, liver, and nervous system.
J. A. Morales, A. Anilkumar
semanticscholar   +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

Metabolic Profiling in Human Fibroblasts Enables Subtype Clustering in Glycogen Storage Disease

Frontiers in Endocrinology, 2020
Glycogen storage disease subtypes I and III (GSD I and GSD III) are monogenic inherited disorders of metabolism that disrupt glycogen metabolism. Unavailability of glucose in GSD I and induction of gluconeogenesis in GSD III modify energy sources and ...
L. Hannibal, Jule Theimer, Victoria Wingert, Katharina Klotz, Iris Bierschenk, R. Nitschke, U. Spiekerkoetter, S. Grünert   +7 more
semanticscholar   +1 more source

A nationwide assessment of hepatocellular adenoma resection: Indications and pathological discordance

Hepatology Communications, EarlyView., 2022
Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring, Arthur K. E. Elfrink, Christiaan A. J. Oudmaijer, Paul C. M. Andel, Alicia Furumaya, Nenke de Jong, Colin J. J. M. Willems, Thijs Huits, Julie M. L. Sijmons, Eric J. T. Belt, Koop Bosscha, Esther C. J. Consten, Mariëlle M. E. Coolsen, Peter van Duijvendijk, Joris I. Erdmann, Paul Gobardhan, Robbert J. de Haas, Tjarda van Heek, Hwai‐Ding Lam, Wouter K. G. Leclercq, Mike S. L. Liem, Hendrik A. Marsman, Gijs A. Patijn, Türkan Terkivatan, Babs M. Zonderhuis, Izaak Quintus Molenaar, Wouter W. te Riele, Jeroen Hagendoorn, Alexander F. M. Schaapherder, Jan N. M. IJzermans, Carlijn I. Buis, Joost M. Klaase, Koert P. de Jong, Vincent E. de Meijer, the Dutch Benign Liver Tumor Group, R. B. Takkenberg, J. Verheij, O. M. van Delden, J. I. Erdmann, B. V. van Rosmalen, A. Furumaya, G. Kazemier, D. Ramsoekh, J. N. M. IJzermans, R. A. de Man, M. D. Doukas, M. G. Thomeer, A. J. Klompenhouwer, A. F. M. Schaapherder, M. E. Tushuizen, M. J. Coenraad, A. S. L. P. Crobach, M. C. Burgmans, S. Feshtali, M. M. E. Coolsen, M. Kramer, J. C. Beckervordersandforth, I. V. Samarska, C. van der Leij, R. Miclea, J. H. W. de Wilt, P. B. van den Boezem, E. T. T. L. Tjwa, I. Munsterman, S. Vos, S. van Koeverden, V. E. de Meijer, F. J. C. Cuperus, R. J. de Haas, E. W. Duiker, M. P. D. Haring   +70 more
wiley   +1 more source

Late Diagnosis of Fanconi-Bickel Syndrome

Journal of Inborn Errors of Metabolism and Screening, 2016
Fanconi-Bickel syndrome (FBS), also known as glycogen storage disease type XI (GSD XI), is a rare autosomal recessive disorder of carbohydrate metabolism.
Nirupama Gupta MD, Bimota Nambam MD, David A. Weinstein MD, MMSc, Lawrence R. Shoemaker MD   +3 more
doaj   +1 more source

Radiography of glycogen storage diseases [PDF]

American Journal of Roentgenology, 1979
Sixty-three patients with glycogen storage disease were evaluated. Findings on plain film examinations, excretory urography, barium gastrointestinal studies, ultrasonography, and angiography were categorized by type of glycogen storage disease. In type I findings include hepatomegaly with hepatic dysfunction, renomegaly with an increased incidence of ...
J H, Miller, P, Stanley, G F, Gates
openaire   +2 more sources

Glycogen storage disease type I (GSD I) [PDF]

, 2012
Review on Glycogen storage disease type I (GSD I), with data on clinics, and the genes ...
Mollet, Boudjemline A, Petit, F, Trioche, Eberschweiler P, Gajdos, V, Labrune, P, Hubert, Buron A   +5 more
core   +1 more source