Results 1 to 10 of about 3,882 (211)

Physical exercise intervention in glycogen storage disease IIIa: Feasibility and multisystem benefits [PDF]

Experimental Physiology
Glycogen storage disease III (GSD‐III) is caused by an inherited deficiency of the glycogen debranching enzyme. Affecting the liver, muscle and heart, GSD‐IIIa is the most common GSD‐III subtype.
Asunción Bustos‐Sellers, Almudena Montalvo‐Pérez, Araceli Boraita, Gonzalo Saco‐Ledo, Lidia B. Alejo, David Barranco‐Gil, Pedro L. Valenzuela, Nerea López‐Maldonado, Roser Ferrer‐Costa, Javier Esparcia‐Estrela, Celia Monteagudo‐López, Tomàs Pinós, Alejando Santos‐Lozano, Alejandro Lucia, Alfredo Santalla   +14 more
doaj   +3 more sources

Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III. [PDF]

Physiol Rep
Abstract 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, Peli L, Pollastri L, Ferri A, Tremolizzo L, Conti E, Pieruzzi F, Miserocchi G, Beretta E, Marzorati M, Zardo W, Gasperini S, Pretese R, Paci S, Capelli C, Mariani R, Cattoni A, Balduzzi AC, Parini R.   +18 more
europepmc   +2 more sources

Glycogenic Hepatopathy: A Case Report of a Rare Complication in Uncontrolled Diabetes. [PDF]

Clin Case Rep
ABSTRACT 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 Pediatr
We 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, Almoli E, de Nanassy J, Mashally S.   +3 more
europepmc   +2 more sources

Acute hepatitis induced by insulin overdose and oral glucose administration in a child managed under a hybrid continuous care model [PDF]

Endocrinology, Diabetes & Metabolism Case Reports
Acute hepatitis was reported in a 10-year-old male patient with type 1 diabetes, believed to be due to hepatic glycogenosis from insulin overdose and oral glucose administration.
Judy Kattan, Kowshik Gupta, Hala Zakaria, Sheikha Alshehhi, Noah Almarzooqi, Ali Hashemi, Ihsan Almarzooqi   +6 more
doaj   +2 more sources

Liver transplantation in glycogen storage disease type III: A case-series. [PDF]

JIMD Rep
Abstract Glycogen storage disease type III (GSD III) is a rare metabolic disorder characterized by a deficiency of liver and muscle amylo‐1,6‐glucosidase. This condition presents with severe hepatic symptoms in childhood, mostly hepatomegaly, hypoglycemia in half of patients, while muscular complications may predominate in adulthood.
Gay S, Bigot A, d'Alteroche L, Dujardin F, Fromont-Hankard G, Tressel N, Salame E, Maillot F.   +7 more
europepmc   +2 more sources

Interstitial lung disease in infancy and early childhood: Clinical approach. [PDF]

Pediatr Pulmonol
Pediatric Pulmonology, Volume 60, Issue S1, Page S24-S26, March 2025.
Bush A.
europepmc   +2 more sources

Pulmonary interstitial glycogenosis in two neonates: Early recognition and use of corticosteroids [PDF]

Respiratory Medicine Case Reports
Pulmonary interstitial glycogenosis (PIG) is known to be associated with a wide variety of congenital conditions, though the extent to which PIG contributes to clinical presentation and outcomes in infants remains controversial.
Eric Hamberger, Yolanda Yu, Hyo-Jung Choi   +2 more
doaj   +2 more sources

An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease [PDF]

Italian Journal of Pediatrics
Background Pompe disease, also known as glycogenosis type II or acid maltase deficiency, is an autosomal recessive disease caused by a deficiency of alpha-glucosidase. The severity depends mainly on the type of mutation, which in turn determines early or
Francesco Leo, Luca Barchi, Giulia Russo, Eleonora Balestri, Elena Chesi, Francesco Di Dio, Livia Garavelli, Lorenzo Iughetti, Giancarlo Gargano   +8 more
doaj   +2 more sources

Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report

Journal of Medical Case Reports, 2022
Background We report a case of the neonatal interstitial lung disease pulmonary interstitial glycogenosis in a girl with Jacobsen syndrome. While Jacobsen syndrome is caused by a deletion on the long arm of chromosome 11 and is genetically confirmed ...
Marit Lunde Dalen, Natalya Filipchuk Vigerust, Clara Hammarström, Henrik Holmstrøm, Jannicke Hanne Andresen   +4 more
doaj   +1 more source