Results 21 to 30 of about 20,402 (244)

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

Pompe disease, a storage cardiomyopathy

Cardiogenetics, 2017
Pompe disease also known as glycogen storage disease type II, is a rare and progressive lysosomal storage disorder caused by the deficiency of the enzyme acid α-glucosidase.
Tiziana Felice
doaj   +1 more source

Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease

Pharmaceuticals, 2023
Pompe disease is a lysosomal storage disorder with impaired glycogen degradation caused by a deficiency of the enzyme acid α-glucosidase (GAA). Children with the severe infantile form do not survive beyond the first year of life without treatment.
Lina Fiege, Ibrahim Duran, Thorsten Marquardt   +2 more
doaj   +1 more source

Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II [PDF]

, 2003
The importance of proper lysosomal activity in cell and tissue homeostasis is underlined by experiments of nature , i.e. genetic defects in one of the at least 40 lysosomal enzymes/proteins present in the human cell.
Drost, Maarten R, Van der Vusse, Ger J, Wagenmakers, Anton, Hesselink, RP Reinout, Drost, M.R., Drost, M Maarten, Vusse, G Ger van der, van der Vussw, GJ, Hesselink, M.K.C., Vusse, van der, G.J., Hesselink, RP, Hesselink, R.P, Anton J.M Wagenmakers, Maarten R Drost, Wagenmakers, AJM Anton, Wagenmakers, A.J.M., Ger J Van der Vusse, Hesselink, Reinout P, Wagenmakers, Anton J.M, Bemelman, W.A., van der Vusse, G.J., Drost, M, Reinout P Hesselink   +22 more
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Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse

Neurobiology of Disease, 2004
Hearing deficit occurs in several lysosomal storage disorders but has so far not been recognized as a symptom of Pompe's disease (glycogen storage disease type II).
Joep H.J Kamphoven, Martijn M de Ruiter, Leon P.F Winkel, Hannerieke M.P Van den Hout, Jan Bijman, Chris I De Zeeuw, Hans L Hoeve, Bert A Van Zanten, Ans T Van der Ploeg, Arnold J.J Reuser   +9 more
doaj   +1 more source

Evidence of Cardiomyocyte Necrosis in Glycogen Storage Disease type-II

, 2007
Adult-onset glycogen storage disease type II (GSD-II), unlike the infantile form, is not normally associated with coexisting cardiovascular pathologies. In infantile onset GSD-II, cardiomyopathy is a common feature, and mutations in the genes for cardiac
Lawson, G. J., Collinson, P.O., Gaze, D.C., Harris, A.   +3 more
core   +1 more source

Assessment of adeno-associated virus gene therapies efficacy on acid alpha-glucosidase restoration and glycogen storage correction in cardiac muscle of Pompe disease mice using synchrotron infrared and ultraviolet microspectroscopies

Journal of Spectral Imaging, 2019
Pompe disease (glycogen storage disease type II) is a lysosomal storage disorder due to a mutation in the gene that encodes acid alpha-glucosidase (GAA).
Laurence Dubreil, Lydie Lagalice, Johan Deniaud, Antoine Sabourin, Claire Lovo, Karim Bey, Juliette Hordeaux, Chantal Thorin, Christophe Sandt, Frédéric Jamme, Marie-Anne Colle   +10 more
doaj   +1 more source

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018

International Journal of Neonatal Screening, 2023
The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS).
Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam, Scott D. Grosse   +4 more
doaj   +1 more source

Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene

Stem Cell Research, 2019
Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a five months-old boy with glycogen storage disease type II(GSD II, also known as Pompe disease, PD) carries ...
Yanmin Zhang, Anmao Li, Jie Wang, Guoxia Wang, Danying Wang   +4 more
doaj   +1 more source