Results 11 to 20 of about 20,402 (244)

Generation and characterization of three human induced pluripotent stem cell lines from patients with glycogen storage disease type II

Stem Cell Research
Glycogen storage disease type II (GSDII), or Pompe disease, is a rare autosomal recessive metabolic disorder characterized by the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA).
Matthieu Lejars, Christelle Kabore, Benjamin Marande, Laura Brulle-Soumare, Nejette Lallouche, Karim Wahbi, Edoardo Malfatti, Teresinha Evangelista, Lina El Kassar, Pascal Fragner, Karine Giraud-Triboult, Lucile Hoch, Xavier Nissan, Quentin Miagoux   +13 more
doaj   +2 more sources

Progress in enzyme replacement therapy in glycogen storage disease type II [PDF]

Therapeutic Advances in Neurological Disorders, 2009
Glycogen storage disease type II (GSDII) is an autosomal recessive lysosomal disorder caused by mutations in the gene encoding alpha-glucosidase (GAA). The disease can be clinically classified into three types: a severe infantile form, a juvenile and an ...
Corrado Angelini, Claudio Semplicini, Paola Tonin, Massimiliano Filosto, Elena Pegoraro, Gianni Sorarù, Marina Fanin   +6 more
doaj   +2 more sources

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II). [PDF]

Orphanet J Rare Dis
Acid alpha-glucosidase deficiency; Glycogen storage disease type II; Pompe diseaseDeficiencia de alfa-glucosidasa ácida; Enfermedad de almacenamiento de glucógeno tipo II; Enfermedad de PompeDeficiència d'alfa-glucosidasa àcida; Malaltia d'emmagatzematge
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT, MetabERN Subnetwork for Lysosomal Disorders.   +21 more
europepmc   +2 more sources

The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII). [PDF]

Cell Death Differ, 2012
Regulated removal of proteins and organelles by autophagy-lysosome system is critical for muscle homeostasis. Excessive activation of autophagy-dependent degradation contributes to muscle atrophy and cachexia.
Nascimbeni AC, Fanin M, Masiero E, Angelini C, Sandri M.   +4 more
europepmc   +2 more sources

Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients. [PDF]

Autophagy, 2012
The autophagy-lysosome system is essential for muscle cell homeostasis and its dysfunction has been linked to muscle disorders that are typically distinguished by massive autophagic buildup.
Nascimbeni AC, Fanin M, Masiero E, Angelini C, Sandri M.   +4 more
europepmc   +2 more sources

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

Rare case of type II glycogen storage disease [PDF]

, 2015
The article presents information about a rare case of Pompe disease. It is a glycogen storage disease. During the third screening of a pregnant woman, the ultrasonography of the fetus’s heart revealed the myocardial hypertrophy of the left ventricle ...
Tverskoi, A. V., Trunova, R. B., Nagorniy, V. A., Mukhina, T. S., Khabibullin, R. R.   +4 more
core   +2 more sources

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

A nationwide assessment of hepatocellular adenoma resection: Indications and pathological discordance

Hepatology Communications, EarlyView., 2022
Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring, Arthur K. E. Elfrink, Christiaan A. J. Oudmaijer, Paul C. M. Andel, Alicia Furumaya, Nenke de Jong, Colin J. J. M. Willems, Thijs Huits, Julie M. L. Sijmons, Eric J. T. Belt, Koop Bosscha, Esther C. J. Consten, Mariëlle M. E. Coolsen, Peter van Duijvendijk, Joris I. Erdmann, Paul Gobardhan, Robbert J. de Haas, Tjarda van Heek, Hwai‐Ding Lam, Wouter K. G. Leclercq, Mike S. L. Liem, Hendrik A. Marsman, Gijs A. Patijn, Türkan Terkivatan, Babs M. Zonderhuis, Izaak Quintus Molenaar, Wouter W. te Riele, Jeroen Hagendoorn, Alexander F. M. Schaapherder, Jan N. M. IJzermans, Carlijn I. Buis, Joost M. Klaase, Koert P. de Jong, Vincent E. de Meijer, the Dutch Benign Liver Tumor Group, R. B. Takkenberg, J. Verheij, O. M. van Delden, J. I. Erdmann, B. V. van Rosmalen, A. Furumaya, G. Kazemier, D. Ramsoekh, J. N. M. IJzermans, R. A. de Man, M. D. Doukas, M. G. Thomeer, A. J. Klompenhouwer, A. F. M. Schaapherder, M. E. Tushuizen, M. J. Coenraad, A. S. L. P. Crobach, M. C. Burgmans, S. Feshtali, M. M. E. Coolsen, M. Kramer, J. C. Beckervordersandforth, I. V. Samarska, C. van der Leij, R. Miclea, J. H. W. de Wilt, P. B. van den Boezem, E. T. T. L. Tjwa, I. Munsterman, S. Vos, S. van Koeverden, V. E. de Meijer, F. J. C. Cuperus, R. J. de Haas, E. W. Duiker, M. P. D. Haring   +70 more
wiley   +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