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 +3 more sources
Hepatic glycogenosis in type 1 diabetes mellitus mimicking Mauriac syndrome [PDF]
Korean Journal of Pediatrics, 2015 Hepatic glycogenosis in type 1 diabetes mellitus (DM) can be caused by poor glycemic control due to insulin deficiency, excessive insulin treatment for diabetic ketoacidosis, or excessive glucose administration to control hypoglycemia.
In Ah Jung +7 more
doaj +2 more sources
Persistent hyperlactatemia in decompensated type I diabetes with hepatic glycogenosis and hepatomegaly: Mauriac syndrome: a case report [PDF]
Journal of Medical Case Reports, 2022 Background We describe a case of Mauriac syndrome, which is a rare complication of poorly controlled type I diabetes that combines glycogenosis, hepatomegaly, growth retardation with a Cushingoid appearance that is most often present in children but also
Waheed Dolip +3 more
openalex +2 more sources
Ketogenic diet treatment in adults with glycogenosis type IIIa (Morbus Cori)
Clinical Nutrition Experimental, 2019 Summary: Background: Glycogen storage disease type IIIa (GSDIIIa) is a defect of the debranching enzyme (amylo-1,6-glucosidase) in glycogenolysis and has an effect on the muscles and the liver.
Tobias Fischer +4 more
doaj +2 more sources
Pulmonary interstitial glycogenosis cells express mesenchymal stem cell markers [PDF]
European Respiratory Journal, 2020 Pulmonary interstitial glycogenosis (PIG) was first defined as a distinct neonatal interstitial lung disease of unknown aetiology that presents in neonates and young infants with mild to severe hypoxic lung disease [1].
Csaba Galambos +3 more
openalex +2 more sources
PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis
Annals of Pediatric Cardiology, 2015 Mutations in PRKAG2 gene that regulates the γ2 subunit of the adenosine monophosphate (AMP) dependent protein kinase have been associated with the development of atrioventricular (AV) accessory pathways, cardiac hypertrophy, and conduction system ...
Varun Aggarwal +5 more
doaj +2 more sources
Sibs with Cardiac Glycogenosis [PDF]
Archives of Disease in Childhood, 1964 Giavonni Lewis, T. W. Sutherland
openalex +4 more sources
Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III. [PDF]
Physiol RepAbstract People with glycogen storage disease type III (GSDIII‐p) have a remarkably reduced exercise tolerance. Aim of this study was to analyze the oxygen transport‐utilization chain strategies adopted by GSDIII‐p during exercise. Nine GSDIII‐p (39.4 ± 10.0 year, 33% female) and 11 healthy controls (CTRL), age and gender matched, underwent an ...
Lanfranconi F +18 more
europepmc +2 more sources
Glycogenic Hepatopathy: A Case Report of a Rare Complication in Uncontrolled Diabetes. [PDF]
Clin Case RepABSTRACT Glycogenic hepatopathy (GH) is an underrecognized yet reversible cause of hepatomegaly and transaminase elevation in adolescents with poorly controlled type 1 diabetes mellitus (T1DM). While liver biopsy is often utilized to exclude other hepatic pathologies, it can also aid in confirming GH when noninvasive findings are inconclusive.
Musleh M, AlMokbel A.
europepmc +2 more sources
New Insights: P.I.G in Preterm Infants With Isolated PDA and Severe Pulmonary Hypertension. [PDF]
Case Rep PediatrWe present a case of a premature infant who had a persistent patent ductus arteriosus (PDA) and subsequently developed severe pulmonary hypertension (PHT) and respiratory failure. A lung biopsy was performed during PDA ligation, revealing a consistent thickening of the interstitial tissue.
Fadel NB +3 more
europepmc +2 more sources