Results 61 to 70 of about 4,281 (208)
Acta Veterinaria Scandinavica, 1976 Four cases of a generalized form of glycogenosis occurring in German Shepherd dogs, all females, are described. Symptoms could be noticed as early as the age of two months and progressed slowly for months. They appeared as dizziness, muscular weakness, and in two of the cases as poor nutritional state. The abdomen became gradually distended.
Muhammad Rafiquzzaman +3 more
openaire +1 more source
Diffuse Parotid Gland Enlargement Assosiated with Glycogen Storage Disease III: A Case Report
Endocrinology Research and Practice, 2005 The purpose of this study was to explore the patient whose diffuse parotid gland enlargement propable related with glycogen storage disease III(Cori-Forbes Disease).
Ercan Akbay, Hatice Toy, Kayhan Öztürk
doaj +2 more sources
Pediatric Pulmonology 2024 Year in Review: Rare and Diffuse Lung Disease
Pediatric Pulmonology, Volume 60, Issue 4, April 2025.ABSTRACT The field of pediatric rare and diffuse lung diseases continues to advance, with ongoing research deepening our understanding of the diagnosis and treatment of conditions such as children's interstitial and diffuse lung disease (chILD), non‐cystic fibrosis (CF) bronchiectasis, and pulmonary complications of childhood cancer.
Pi Chun Cheng +3 more
wiley +1 more source
American Journal of Perinatology Reports, 2015 Pulmonary interstitial glycogenosis (PIG) is a rare interstitial lung disease in the newborns. We report on the clinical presentation and pathological findings of a full-term male infant with pulmonary hypertension requiring extracorporeal membrane ...
Maresa E. C. Jiskoot-Ermers +5 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2020 The rs2229611 SNP (G6PC:c.*23T>C) in the 3’UTR region of the G6PC gene affects the stability of the glucose-6-phosphatase mRNA and occurs in a higher frequency in patients with glycogenosis Ia (GSD Ia) in some populations.
Franciele Cabral Pinheiro +5 more
doaj +1 more source
Aerobic capacity and muscle proteome: Insights from a mouse model
Experimental Physiology, Volume 110, Issue 2, Page 293-306, 1 February 2025.Abstract We explored the association between aerobic capacity (AC) and the skeletal muscle proteome of McArdle (n = 10) and wild‐type (n = 8) mice, as models of intrinsically ‘low’ and ‘normal’ AC, respectively. AC was determined as total distance achieved in treadmill running until exhaustion.
Abel Plaza‐Florido +9 more
wiley +1 more source
, 2019 Microbial biomarkers differentiating patients with hepatic glycogenosis diseases and healthy controls.
Eric W. Triplett (94318) +7 more
core +1 more source
Visual affectation in patients with glycogen storage disease (Glycogenosis) [PDF]
, 2016 In this project we wanted to comprise the visual affectations of a rare/minority disease. Based on the little research there is in this field and the large effect that this may actually have in the visual sistem.
Travé Huarte, Sònia
core +1 more source
Pompe's disease or type IIa glycogenosis
Arquivos Brasileiros de Cardiologia, 1999 This is the report of a five-month-old child presenting clinical evidence of Pompe's disease: severe hypotonicity, hyporeflexia and congestive heart failure. The ECG showed a short PR interval, the chest radiography disclosed marked cardiomegaly, and the
José Luiz Balthazar Jacob +2 more
doaj +1 more source
Jornal de Pediatria, 1999 OBJECTIVE: To o present up-to-date knowledge about Glycogen storage disease type I (GSD-type I) - a disease caused by the deposit of glycogen resulting from the deficiency of the enzyme glucose-6- phosphatase - and to provide the pediatricians with the necessary information for a precocious diagnosis and an adequate conduct for those cases where this ...
C V, Reis +3 more
openaire +2 more sources