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American Journal of Medical Genetics. Part A|August 6, 2003
An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformationsShih-hsin Kan, David Johnson, Henk Giele, et al.
Stem Cell Research|May 11, 2023
Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA geneChloe Christensen, Perla Heckman, Allisandra Rha, et al.
Molecular Genetics and Metabolism|November 30, 2021
Neuropathology of murine Sanfilippo D syndromeKeigo Takahashi, Steven Q Le, Shih-Hsin Kan, et al.
Molecular Genetics and Metabolism Reports|January 4, 2024
Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis type ISarah C Hurt, Moin U Vera, Steven Q Le, et al.
Biotechnology and Applied Biochemistry|December 17, 2011
Biochemical characterization of fluorescent-labeled recombinant human alpha-L-iduronidase in vitroBrigette L Tippin, Larisa Troitskaya, Shih-hsin Kan, et al.
Molecular Therapy. Nucleic Acids|July 1, 2024
Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cellsChloe L Christensen, Shih-Hsin Kan, Perla Andrade-Heckman, et al.
Stem Cell Research|September 20, 2024
Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testingAllisandra K Rha, Chloe L Christensen, Shih-Hsin Kan, et al.
Molecular Therapy. Methods & Clinical Development|March 24, 2025
Antibodies to recombinant human alpha-L-iduronidase prevent disease correction in cortical bone in MPS I miceSarah C Hurt, Steven Q Le, Shih-Hsin Kan, et al.
Molecular Genetics and Metabolism|September 20, 2024
Base editing of the GLB1 gene is therapeutic in GM1 gangliosidosis patient-derived cellsAllisandra K Rha, Shih-Hsin Kan, Perla Andrade-Heckman, et al.
Behavioural Brain Research|June 25, 2016
Behavioral deficits and cholinergic pathway abnormalities in male Sanfilippo B miceShih-Hsin Kan, Steven Q Le, Quang D Bui, et al.
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