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 +10 more
core +1 more source
Oral Manifestations in Patients with Glycogen Storage Disease: A Systematic Review of the Literature
Applied Sciences, 2020 (1) Background: Glycogen storage disease (GSD) represents a group of twenty-three types of metabolic disorders which damage the capacity of body to store glucose classified basing on the enzyme deficiency involved.
Antonio Romano +7 more
doaj +1 more source
Ketosis in Hepatic Glycogenosis [PDF]
Archives of Disease in Childhood, 1972 The occurrence of ketosis in 41 patients with liver glycogenosis and a control group of 22 children was investigated. Fasting ketosis was present in children with a deficiency of the debranching enzyme system and in young children with a deficiency of the phosphorylase system, but never in patients with a glucose-6-phosphatase deficiency.
J, Fernandes, N A, Pikaar
openaire +2 more sources
Skeletal muscle metabolism during prolonged exercise in Pompe disease
Endocrine Connections, 2017 Objective: Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown.
Nicolai Preisler +8 more
doaj +1 more source
Therapeutic advances in the management of Pompe disease and other metabolic myopathies
Therapeutic Advances in Neurological Disorders, 2013 The world of metabolic myopathies has been dramatically modified by the advent of enzyme replacement therapy (ERT), the first causative treatment for glycogenosis type II (GSDII) or Pompe disease, which has given new impetus to research into that disease
Corrado Angelini +2 more
doaj +1 more source
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy [PDF]
, 2018 Objectives: Pompe disease is a progressive metabolic myopathy for which enzyme replacement therapy (ERT) was approved in 2006. While various publications have examined the effects of ERT in classic-infantile patients and in adults, little has been ...
Beek, N.A.M.E. (Nadine) van der +5 more
core +1 more source
Pulmonary interstitial glycogenosis: Diagnostic evaluation and clinical course
Pediatric Pulmonology, 2018 We sought to describe the phenotype for patients with P.I.G. including presentation, evaluation, cardiac co‐morbidities, high resolution computed tomography findings, and outcomes.
D. Liptzin +7 more
semanticscholar +1 more source
Liver transplantation for glycogen storage disease types I, III, and IV [PDF]
, 1999 Glycogen storage disease (GSD) types I, III, and IV can be associated with severe liver disease. The possible development of hepatocellular carcinoma and/or hepatic failure make these GSDs potential candidates for liver transplantation.
Arnaout, W +11 more
core +5 more sources
Persistence of persistent pulmonary hypertension of the newborn: A case of de novo TBX4 variant
Pulmonary Circulation, 2022 We present a case of a late preterm infant placed on extracorporeal life support in the first day of life for persistent pulmonary hypertension of the newborn.
Stephanie M. Tsoi +7 more
doaj +1 more source
Cardiac manifestations of PRKAG2 mutation. [PDF]
, 2018 BACKGROUND:The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue.
Ardehali, Reza +3 more
core +1 more source