Results 21 to 30 of about 9,712 (86)

Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI)

Data in Brief
Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching.
Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari   +6 more
doaj   +1 more source

Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation

Gut and Liver, 2009
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues.
doaj   +1 more source

Glycogen storage disease, an uncommon cause of portal hypertension in adulthood.

Annals of Hepatology
Introduction and Objectives: Glycogen storage diseases are inborn errors of metabolism, with an estimated incidence of 1 in 10,000. Type IV represents 3% of this diseases (GBE1 gene 3p14 involvement), presenting with varied clinical features, including a
Jessica Valencia Chávez, José Luis Moras Villela, Aleida Bautista Santos, Fany Gabriela Juárez Aguilar   +3 more
doaj   +1 more source

Clinical features and rare complications in 132 patients with hepatic glycogenosis

Orphanet Journal of Rare Diseases
Background Glycogen storage diseases (GSDs) with liver involvement are classified into subtypes—types 0, Ia, and Ib; III, IV, VI, IX, and XIa, XIb, and XIc, depending on the deficient enzyme. Hypoglycemia and hepatomegaly (except type 0) are hallmarks of
Deniz Kor, Fatma Derya Bulut, Burcu Köşeci, Esra Kara, Ezgi Burgaç, İrem Kaplan, Nazmiye Tüzel Gündüz, Halise Neslihan Önenli Mungan   +7 more
doaj   +1 more source

The potential of dietary treatment in patients with glycogen storage disease type IV. [PDF]

J Inherit Metab Dis, 2021
Derks TGJ, Peeks F, de Boer F, Fokkert-Wilts M, van der Doef HPJ, van den Heuvel MC, Szymańska E, Rokicki D, Ryan PT, Weinstein DA.   +9 more
europepmc   +1 more source

O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*

Genetics in Medicine Open, 2023
Rebecca Koch, Claudia Soler-Alfonso, Bridget Kiely, Akihiro Asai, Ariana Smith, Deeksha Bali, Peter Kang, Andrew Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer Orthmann-Murphy, Deberah Goldman, Surekha Pendyal, Areeg El-Gharbawy, Stephanie Austin, Laura Case, Raphael Schiffmann, Michio Hirano, Priya Kishnani   +18 more
doaj   +1 more source

Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging. [PDF]

Eur Heart J Case Rep, 2020
Lyo S, Miles J, Meisner J, Guelfguat M.
europepmc   +1 more source

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed? [PDF]

JIMD Rep, 2019
Schene IF, Korenke CG, Huidekoper HH, van der Pol L, Dooijes D, Breur JMPJ, Biskup S, Fuchs SA, Visser G.   +8 more
europepmc   +1 more source

Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient. [PDF]

BMJ Case Rep, 2019
Ndugga-Kabuye MK, Maleszewski J, Chanprasert S, Smith KD.   +3 more
europepmc   +1 more source

Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IV. [PDF]

JIMD Rep, 2019
Sandhu T, Polan M, Yu Z, Lu R, Makkar A.
europepmc   +1 more source