Results 11 to 20 of about 9,712 (86)

An uncommon cause of early infantile liver disease and raised chitotriosidase

JIMD Reports, 2020
Our subject presented at 11 months of age, following a varicella zoster infection, with acute on chronic liver disease and was found to have raised serum chitotriosidase. White cell enzyme analysis for Gaucher, Niemann Pick A, B and lysosomal acid lipase
Srividya Sreekantam, Hina Rizvi, Rachel Brown, Saikat Santra, Julian Raiman, Suresh Vijay, Patrick J. Mckiernan, Girish L. Gupte   +7 more
doaj   +1 more source

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

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

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

Myopathy in glycogen storage disease type IV: case report of a family

Бюллетень сибирской медицины
Aim. To study the clinical presentation and differential diagnosis of a rare hereditary disease glycogen storage disease type IV with progressive skeletal myopathy in a case report of a family.Materials and methods.
I. F. Fedoseeva, T. V. Poponnikova, O. S. Pinevich   +2 more
doaj   +1 more source

First fully laparoscopic donor hepatectomy for pediatric liver transplantation using the indocyanine green near-infrared fluorescence imaging in the Middle East: a case report

Annals of Saudi Medicine, 2014
Living donor liver transplantation (LDLT) is a well-established treatment modality for several pediatric end-stage liver diseases owning excellent long-term results.
Robert Ivan Troisi, Yasser Mahmoud Elsheikh, Mohammad Ali Shagrani, Dieter Broering   +3 more
doaj   +1 more source