Results 41 to 50 of about 8,846 (292)

CHARACTERISTICS OF THE HEPATIC MORPHOLOGICAL CHANGES IN CHILDREN WITH GLYCOGENOSIS

Вопросы современной педиатрии, 2013
Aim: to determine characteristics of the hepatic morphology in children with I, III and VI types of glycogenosis. Patients and methods: 50 children with glycogenosis (6 with type I, 18 with type III and 26 with type VI) aged from 1 to 17 (6,5±0,6) years ...
A. N. Surkov, A. S. Potapov, A. L. Lozovator, E. L. Tumanova   +3 more
doaj   +1 more source

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature [PDF]

, 2003
OBJECTIVE: Infantile Pompe's disease is a lethal cardiac and muscular disorder. Current developments toward enzyme replacement therapy are promising. The aim of our study is to delineate the natural course of the disease to verify endpoints of clinical ...
Bakker, H.D. (Henk), Diggelen, O.P. (Otto) van, Hop, W.C.J. (Wim), Hout, J.M.P. (Johanna) van den, Klerk, J.B.C. (Johannes) de, Loonen, M.C.B. (Christa), Ploeg, A.T. (Ans) van der, Poll-The, B.T., Reuser, A.J.J. (Arnold), Smeitink, J.A.M. (Jan), Smit, G.P.   +10 more
core   +1 more source

Pulmonary interstitial glycogenosis: an independent disease or morphological manifestation of the spectrum of interstitial lung diseases in infants?

Zdorovʹe Rebenka, 2018
The article presents a modern view on the problem of pulmonary interstitial glycogenosis, describes a typical clinical and morphological picture of the disease, and considers the disease etiology and the possibility of pulmonary interstitial glycogenosis
O.L. Logvinova, M.A. Gonchar
doaj   +1 more source

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease [PDF]

, 1998
Glycogen storage disease type II (GSDII; Pompe disease), caused by inherited deficiency of acid alpha-glucosidase, is a lysosomal disorder affecting heart and skeletal muscles.
Bakker, C.E. (Cathy), Bijvoet, A.G.A. (Agnes), Ding, J.-H. (Jia-Huan), Kamp, E.H. van de, Kroos, M.A. (Marian), Oostra, B.A. (Ben), Ploeg, A.T. (Ans) van der, Reuser, A.J.J. (Arnold), Verbeet, M.Ph. (Martin), Visser, P. (Pim), Yang, B.Z. (Bing)   +10 more
core   +1 more source

Hepatomegaly and type 1 diabetes: a clinical case of Mauriac’s syndrome

Italian Journal of Pediatrics, 2019
Background Hepatic glycogenosis is characterized by excessive glycogen accumulation in hepatocytes and represents a complication of poor controlled type 1 diabetes. It can be caused by excessive insulin doses or recurrent ketoacidosis episodes. Mauriac’s
Fortunato Lombardo, Stefano Passanisi, Albino Gasbarro, Giovanni Tuccari, Antonio Ieni, Giuseppina Salzano   +5 more
doaj   +1 more source

Interstitial Lung Disease in Children: “Specific Conditions of Undefined Etiology” Becoming Clearer

Children, 2022
Background: Children’s interstitial lung disease (chILD) is a rare group of pediatric lung diseases affecting the lung interstitium diffusely. In this work, we focused our attention on a specific infant group of chILD, also known as “specific conditions ...
Santiago Presti, Giuseppe Fabio Parisi, Maria Papale, Eloisa Gitto, Sara Manti, Salvatore Leonardi   +5 more
doaj   +1 more source

Cell migration and chimerism after whole‐organ transplantation: The basis of graft acceptance [PDF]

, 1993
Improvements in the prevention or control of rejection of the kidney and liver have been largely interchangeable ( 1 , 2 ) and then applicable, with very little modification, to thoracic and other organs.
Demetris, AJ, Fung, JJ, Ildstad, S, Kocova, M, Murase, N, Nalesnik, M, Ramos, H, Ricordi, C, Rudert, WA, Starzl, TE, Todo, S, Trucco, M, Tzakis, A, Zeevi, A   +13 more
core   +1 more source

Mauriac Syndrome: A Rare Hepatic Glycogenosis in Poorly Controlled Type 1 Diabetes

GE: Portuguese Journal of Gastroenterology, 2019
Background: Hepatic glycogenosis (HG) is a complication of poorly controlled type 1 diabetes mellitus (T1DM), characterized by glycogen accumulation in hepatocytes.
M. Patita, G. Nunes, A. P. Alves de Matos, H. Coelho, C. Fonseca, J. Fonseca   +5 more
semanticscholar   +1 more source

Pompe disease, a late-onset – misleading form of diagnosis in a patient with persistent hepatic cytolysis syndrome [PDF]

Romanian Journal of Pediatrics, 2020
The article discusses a clinical case of late-onset Pompe disease in a 15-year and 6-month-old adolescent hospitalised in a Paediatric Gastroenterology department to investigate persistent liver cytolysis, without response to hepatoprotective therapy ...
Smaranda Diaconescu, Cristina Rusu, Laura Bozomitu, Alina Costina Luca, Ecaterina Vlad, Oana-Larisa Ciobanu-Matei, Ramona Babici, Silvia Strat, Lorenza Donea   +8 more
doaj   +1 more source

From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle disease [PDF]

, 2014
McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity.
Andrea Beggs, Andreu AL, Andrew Wakelin, Borg G, Braakhekke JP, Charlotte Ellerton, Gurgel-Giannetti J, Haller RG, Janice L Holton, Jatin Pattni, Lucia A, Lucia A, Miteff F, Nadaj-Pakleza AA, Pearson C, Pernow BB, Quinlivan R, Renata Siciliani Scalco, Richard Godfrey, Ros Quinlivan, Sherryl Chatfield, Stefen Brady, Vieitez I, Vissing J   +23 more
core   +3 more sources