Results 1 to 10 of about 6,697 (249)

Glycogenosis type II (acid maltase deficiency) [PDF]

Muscle and Nerve, 1995
Glycogen storage disease type II (GSD II/glycogenosis type II/Pompe's disease/acid maltase deficiency) is caused by the deficiency of lysosomal α-glucosidase resulting in lysosomal accumulation of glycogen.
Arnold J J Reuser, Ans T van der Ploeg
exaly   +5 more sources

Clinical features and rare complications in 132 patients with hepatic glycogenosis [PDF]

Orphanet Journal of Rare Diseases
Background Glycogen storage diseases (GSDs) with liver involvement are classified into subtypes—types 0, Ia, and Ib; III, IV, VI, IX, and XIa, XIb, and XIc, depending on the deficient enzyme. Hypoglycemia and hepatomegaly (except type 0) are hallmarks of
Deniz Kor, Fatma Derya Bulut, Burcu Köşeci, Esra Kara, Ezgi Burgaç, İrem Kaplan, Nazmiye Tüzel Gündüz, Halise Neslihan Önenli Mungan   +7 more
doaj   +4 more sources

Related liver fragment transplantation for type 1 glycogenosis: the first Russian experience 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. The given first successful clinical experience suggests that liver fragments for type 1 glycogenoses can be transplanted from live related donors and offers promise for the radical treatment of patients with this pathology.

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, A. V. Semenkov, N. A. Koroteyeva, A. Ya. Keligova, A. V. Metelin, E. F. Kim, D. S. Dzhamanchin, N. E. Khartukova, Yu. R. Kamalov, E. Yu. Kryzhanovskaya, V. A. Khovrin, T. N. Galyan, B. S. Kaganov, E. N. Kutyreva, A. I. Zubovich   +14 more
doaj   +3 more sources

CARBOHYDRATE METABOLISM DISORDERS IN CHILDREN: HYPOGLICEMIA, HYPERGLICEMIA, GLYCOGENOSIS, AGLYCOGENOSIS, HEXOSEMIA

Вопросы современной педиатрии, 2017
The lecture describes types, causes, pathogenesis key components, manifestations of typical forms of carbohydrate metabolism pathology: hypoglycemia, hyperglycemia, glycogenosis, aglycogenosis, hexosemia.
Peter F. Litvitsky, Larisa D. Maltseva
doaj   +3 more sources

Irreversible Respiratory Failure in a Full-Term Infant with Features of Pulmonary Interstitial Glycogenosis as Well as Bronchopulmonary Dysplasia [PDF]

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, Tim A. J. Antonius, Monika G. Looijen-Salamon, Marc H. W. A. Wijnen, Bettina F. Loza, Arno F. J. van Heijst   +5 more
doaj   +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

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   +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

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

Computed Tomography and Magnetic Resonance Imaging Features of Primary and Secondary Hepatic Glycogenosis

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, Yu-pin Liu, Guang-juan Zheng   +2 more
doaj   +3 more sources