Nutrition Management in Children Less than 5 Years of Age with Glycogen Storage Disease Type I: Survey Results. [PDF]
NutrientsSowa M +4 more
europepmc +3 more sources
Assessment of auditory functions in patients with hepatic glycogen storage diseases
The Turkish Journal of Pediatrics, 2022 Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings.
Merve Emecen Şanlı +9 more
doaj +1 more source
Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I. [PDF]
JIMD Rep, 2016 Ross KM +8 more
europepmc +2 more sources
Hyperammonemia associated with glycogen storage disease type I
The Turkish Journal of Pediatrics, 1982 M Tunçer, H Yalçin, I Ozalp, M Cağlar
doaj +2 more sources
ANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE I
Revista Paulista de Pediatria, 2021 Objective: To perform anthropometric and dietary evaluation of patients with glycogenosis type Ia and Ib. Methods: This cross-sectional study is composed of a sample of 11 patients with glycogenosis divided into two subgroups according to the ...
Natália Bauab Jorge +2 more
doaj +2 more sources
Glycogen storage disease type I (GSD I) [PDF]
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2012 Review on Glycogen storage disease type I (GSD I), with data on clinics, and the genes involved.
Mollet, Boudjemline A +5 more
openaire +2 more sources
Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
Animals, 2023 Glycogen storage disease type II (Pompe disease: PD) is an autosomal recessively inherited fatal genetic disorder that results from the deficiency of a glycogen hydrolyzing enzyme, acid α-glucosidase encoded by the GAA gene.
Tofazzal Md Rakib +8 more
doaj +1 more source
AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease [PDF]
, 2017 Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy.
Alvino, Filomena Grazia +13 more
core +1 more source
Annals of Hepatology, 2018 Glycogen storage disease type I and glycogenic hepatopathy are the most common type of primary and secondary hepatic glycogenosis, with presenting common radiological features of hepatomegaly, hepatic signal, or density change.
Zhi-yuan Chen +2 more
doaj +1 more source
Neurological Characteristics of Pediatric Glycogen Storage Disease
Frontiers in Endocrinology, 2021 Glycogen storage diseases (GSD) encompass a group of rare inherited diseases due dysfunction of glycogen metabolism. Hypoglycemia is the most common primary manifestation of GSD, and disturbances in glucose metabolism can cause neurological damage.
Julio Henrique Muzetti +10 more
doaj +1 more source