Results 31 to 40 of about 13,856,572 (229)

Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder

Frontiers in Neurology, 2023
Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Joseph R. Abraham, Frederick M. Allen, John Barnard, Daniela Schlatzer, Marvin R. Natowicz, Marvin R. Natowicz   +5 more
doaj   +1 more source

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

European Journal of Pediatrics, 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. One patient had glycogen storage disease (GSD) type I (von Gierke disease) and seven patients had type IV GSD (Andersen disease). As previously reported [19], a 16.5-year-
Selby, R, Starzl, TE, Yunis, E, Todo, S, Tzakis, AG, Brown, BI, Kendall, RS   +6 more
openaire   +2 more sources

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

Annals of Clinical and Translational Neurology, 2020
Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched ...
Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder, Jordan W. Strober, Mitchell A. Sullivan, Yunlin Xue, Cody S. Bennett, Ami M. Perri, Bret M. Evers, Peter J. Roach, Anna A. Depaoli‐Roach, H. Orhan Akman, Bartholomew A. Pederson, Berge A. Minassian   +14 more
doaj   +1 more source

GLUCOGENOSIS AS A CAUSE OF INTRAHEPATIC CHOLESTASIS

Annals of Hepatology, 2022
Introduction and Objectives: Hepatic glycogen storage pathologies are very rare diseases among inborn errors of metabolism caused by the alteration of the enzymes involved in the metabolism of glycogen.
K.Y. Santoyo López, A Domínguez García   +1 more
doaj   +1 more source

A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study

Biomedicines, 2023
Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in the GBE1 gene, which encodes the glycogen branching enzyme (GBE). GSD IV accounts for approximately 3% of all GSD. The phenotype of GSD IV ranges
Matheus Vernet Machado Bressan Wilke, Bibiana Mello de Oliveira, Rodrigo Tzovenos Starosta, Marwan Shinawi, Liang Lu, Mai He, Yamin Ma, Janis Stoll, Carolina Fischinger Moura de Souza, Ana Cecilia Menezes de Siqueira, Sandra Maria Gonçalves Vieira, Carlos Thadeu Cerski, Lilia Farret Refosco, Ida Vanessa Doederlein Schwartz   +13 more
doaj   +1 more source

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

Orphanet Journal of Rare Diseases, 2022
Background Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme.
Miriam Massese, Francesco Tagliaferri, Carlo Dionisi-Vici, Arianna Maiorana   +3 more
doaj   +1 more source

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls

Frontiers in Genetics, 2023
Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1.
Matthew M. Gayed, Paulo Sgobbi, Wladimir Bocca Viera De Rezende Pinto, Priya S. Kishnani, Rebecca L. Koch   +4 more
doaj   +1 more source

Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation

, 2014
Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme.
Li, Sing-Chung;Hwu, Wuh-Liang;Lin, Ju-Li;Bali, Deeksha S.;Yang, Chen;Chu, Shih-Ming;Chien, Yin-Hsiu;Chou, Hung-Chieh;Chen, Chien-Yi;Hsieh, Wu-Shiun;Tsao, Po-Nien;Chen, Yuan-Tsong;Lee, Ni-Chung, 胡務亮 ;謝武勳 ;李妮鍾 ;簡穎秀   +1 more
core   +2 more sources

Glycogen Storage Disease Type IV : A Case Report

International Journal of Medical Reviews and Case Reports, 2020
Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme(GBE). The clinical spectrum is wide ranging from isolated non-progressive hepathopathy, neuromuscular disorders with variable age of onset, to the adult polyglucosan body disease. We report a five month
Abdelhakim elyajouri, mohamed sellouti, Abdelhakim Ourrai, Amale Hassani, Rachid Abilkassem, Aomar Agadr   +5 more
openaire   +1 more source

Glycogen storage disease type IIIa in pregnant women: A guide to management

JIMD Reports, 2022
Glycogen storage disease type IIIa (GSD‐IIIa) is an autosomal recessive disorder that impairs glycogenolysis, producing ketotic hypoglycaemia, hepatomegaly, cardiac and skeletal myopathy.
Demi Beneru, Michel C. Tchan, Kate Billmore, Roshini Nayyar   +3 more
doaj   +1 more source