Results 41 to 50 of about 56,617 (329)

Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland

Journal of Education, Health and Sport, 2019
Pompe disease is estimated to happen in 1 out of 40 000 borns. It is rare metabolic disease connected to autosomal recessive genetic mutation. Disease is characterised by deficit of α-glucosidase (GAA) which is lysosomal glycogen hydrolizing enzyme acid.
Dominika Anna Janeczko, Anna Orzeł, Barbara Klatka, Magdalena Hołowczuk, Grzegorz Szlichta   +4 more
doaj   +3 more sources

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, Auricchio, Alberto, Ballabio, Andrea, Carrella, Alessandra, De Leonibus, Elvira, Diez-roux, Graciana, Gatto, Francesca, Iacobellis, Francesca, Nusco, Edoardo, Parenti, Giancarlo, Polishchuk, Elena, Polishchuk, Roman, Rossi, Barbara, Tarallo, Antonietta   +13 more
core   +1 more source

Total hepatectomy and liver transplant for hepatocellular adenomatosis and focal nodular hyperplasia. [PDF]

, 1992
Extensive hepatocellular adenomatosis (HA) and focal nodular hyperplasia (FNH) represent a proliferation of hepatic cells that occurs most frequently in women.
Baum, Benz, Dehner, Edmondson, Edmondson, Edmondson, Esquivel, Greene, Henson, Howell, Ishak, Iwatsuki, Iwatsuki, Iwatsuki, Kerlim, Kinch, Margreiter, Marino, Marino, Marino, Neuhaus, Parker, Rolles, Starzl, Starzl, Steinbrecher, Stocker, Weinberg, Wheeler, Yokoyama, Zangeneh   +30 more
core   +4 more sources

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

Circulating lipids and lipoproteins in glycogen storage disease type I with nocturnal intragastric feeding.

Journal of Lipid Research, 1988
With the advent of nocturnal intragastric feeding which protects against acute metabolic complications and promotes growth, patients with glycogen storage disease type I are attracting less attention.
E Levy, L A Thibault, C C Roy, M Bendayan, G Lepage, J Letarte   +5 more
doaj   +1 more source

Uptake of moss‐derived human recombinant GAA in Gaa−/− mice

JIMD Reports, 2021
Pompe disease, an autosomal recessive lysosomal storage disorder, is caused by deficiency of lysosomal acid alpha‐glucosidase (GAA). On cellular level, there is lysosomal‐bound and free accumulation of glycogen and subsequent damage of organelles and ...
Stefan Hintze, Paulina Dabrowska‐Schlepp, Birgit Berg, Alexandra Graupner, Andreas Busch, Andreas Schaaf, Benedikt Schoser, Peter Meinke   +7 more
doaj   +1 more source

Infantile Pompe disease with intrauterine onset: a case report and literature review

Italian Journal of Pediatrics, 2022
Background Pompe disease is a rare autosomal recessive disease. Acid alpha−glucosidase (GAA) deficiency leads to glycogen storage in lysosomes, causing skeletal, cardiac, and smooth muscle lesions.
Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang, Lulu Zhang   +5 more
doaj   +1 more source

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Molecular Therapy: Methods & Clinical Development, 2020
Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting.
Stijn L.M. in ’t Groen, Douglas O.S. de Faria, Alessandro Iuliano, Johanna M.P. van den Hout, Hannie Douben, Trijnie Dijkhuizen, David Cassiman, Peter Witters, Miguel-Ángel Barba Romero, Annelies de Klein, Galhana M. Somers-Bolman, Jasper J. Saris, Lies H. Hoefsloot, Ans T. van der Ploeg, Atze J. Bergsma, W.W.M. Pim Pijnappel   +15 more
doaj   +1 more source

Therapeutic Approaches in Glycogen Storage Disease Type II/Pompe Disease

Neurotherapeutics, 2008
Glycogen storage disease type II (GSDII)/Pompe disease is an autosomal recessive multi-system disorder due to a deficiency of the glycogen-degrading lysosomal enzyme, acid alpha-glucosidase. Without adequate levels of alpha-glucosidase, there is a progressive accumulation of glycogen inside the lysosome, resulting in lysosomal expansion in many tissues,
Benedikt, Schoser, Victoria, Hill, Nina, Raben   +2 more
openaire   +3 more sources

Late-onset glycogen storage disease type II - Pompe disease

, 2022
Mackenna Senti
openaire   +2 more sources