Results 31 to 40 of about 3,882 (211)
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
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
Pompe disease, a late-onset – misleading form of diagnosis in a patient with persistent hepatic cytolysis syndrome [PDF]
Romanian Journal of Pediatrics, 2020 The article discusses a clinical case of late-onset Pompe disease in a 15-year and 6-month-old adolescent hospitalised in a Paediatric Gastroenterology department to investigate persistent liver cytolysis, without response to hepatoprotective therapy ...
Smaranda Diaconescu +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
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
Трансплантология (Москва), 2018 The paper describes two clinical examples of successful related liver fragment transplantation for type 1 glycogenosis in a one-year-old boy and a 6-year-old girl.
A. V. Filin +14 more
doaj +1 more source
Frontiers in Aging Neuroscience, 2014 We analyzed the effects of a 4-month resistance (weight lifting) training program followed by a 2-month detraining period in 7 adult McArdle patients (5 female) on: muscle mass (assessed by DXA), strength, serum creatine kinase (CK) activity and clinical
Alfredo eSantalla +7 more
doaj +1 more source
Journal of Nursing Management, Volume 2026, Issue 1, 2026.Aim To explore the lived experiences and perceptions of patients with rare diseases (RD) in relation to the disease process and its management by the healthcare system. Background Although each RD individually affects fewer than 0.05% of the population, collectively RD affect between 3.5% and 5.9% of the global population, representing approximately ...
Pedro Soriano-Martin +7 more
wiley +1 more source
Genotyping Brahman cattle for generalised glycogenosis
, 2002 Objective: To develop procedures for genotyping Brahman cattle for loss-of-function alleles within the acidic α -glucosidase gene and to assess the risk of generalised glycogenosis in Australian Brahman cattle.
KG REICHMANN +5 more
core +1 more source