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Stem Cell Research|October 25, 2020
Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutationSheng Zhu, Anna Hing Yee Law, Ruixia Deng, et al.European Journal of Human Genetics : EJHG|November 9, 2020
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experienceMonica Y Niño, Mark Wijgerde, Douglas Oliveira Soares de Faria, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2016
Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapyJuna M de Vries, Esther Kuperus, Marianne Hoogeveen-Westerveld, et al.Stem Cell Reports|November 1, 2014
Epigenetic characterization of the FMR1 promoter in induced pluripotent stem cells from human fibroblasts carrying an unmethylated full mutationCeline E F de Esch, Mehrnaz Ghazvini, Friedemann Loos, et al.Human Gene Therapy|December 12, 2023
Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct CartilageFabio Catalano, Eva C Vlaar, Zina Dammou, et al.EMBO Molecular Medicine|September 29, 2025
Domain-substituted IGF2 tag modulates targeting of lentiviral gene therapy for Hunter syndromeFabio Catalano, Dejan Stevic, Giacomo Zundo, et al.Journal of Inherited Metabolic Disease|September 16, 2022
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolismRodrigo Canibano-Fraile, Laurike Harlaar, Carlos A Dos Santos, et al.Plos One|December 12, 2018
The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe diseaseEsther Kuperus, Jan C van der Meijden, Stijn L M In 't Groen, et al.Molecular Therapy. Methods & Clinical Development|November 30, 2023
Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type IIFabio Catalano, Eva C Vlaar, Drosos Katsavelis, et al.Journal of Inherited Metabolic Disease|January 19, 2026
GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase DeficiencyCarla Damiano, Antonietta Tarallo, Vincenza Gragnaniello, et al.Pageof 7