Shih-Hsin Kan
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Explore the profile of Shih-Hsin Kan including associated specialties, affiliations and a list of published articles.
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33
Citations
464
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Recent Articles
1.
Calhoun C, Kan S, Stover A, Harb J, Monuki E, Wang R, et al.
Mol Ther Methods Clin Dev
. 2025 Jan;
32(4):101367.
PMID: 39764351
Mucopolysaccharidosis type I (MPS I) is a metabolic disorder characterized by a deficiency in α-l-iduronidase (IDUA), leading to impaired glycosaminoglycan degradation. Current approved treatments seek to restore IDUA levels via...
2.
Rha A, Christensen C, Kan S, Harb J, Andrade-Heckman P, Wang R
Stem Cell Res
. 2024 Sep;
81:103552.
PMID: 39303321
GM1 gangliosidosis (GM1) is a rare autosomal recessive neurogenerative lysosomal storage disease characterized by deficiency of beta-galactosidase (β-gal) and intralysosomal accumulation of GM1 ganglioside and other glycoconjugates. Resources for GM1...
3.
Rha A, Kan S, Andrade-Heckman P, Christensen C, Harb J, Wang R
Mol Genet Metab
. 2024 Sep;
143(1-2):108568.
PMID: 39303319
GM1 gangliosidosis is an autosomal recessive neurodegenerative lysosomal storage disease caused by pathogenic variants in the GLB1 gene, limiting the production of active lysosomal β-galactosidase. Phenotypic heterogeneity is due in...
4.
Christensen C, Kan S, Andrade-Heckman P, Rha A, Harb J, Wang R
Mol Ther Nucleic Acids
. 2024 Jul;
35(2):102220.
PMID: 38948331
Infantile-onset Pompe disease (IOPD) results from pathogenic variants in the gene, which encodes acid α-glucosidase. The correction of pathogenic variants through genome editing may be a valuable one-time therapy for...
5.
Hurt S, Vera M, Le S, Kan S, Bui Q, Dickson P
Mol Genet Metab Rep
. 2024 Jan;
38:101036.
PMID: 38173710
Vascular involvement in the genetic disorder mucopolysaccharidosis type I (MPS I) has features of atherosclerotic disease near branch points of arterial vasculature, such as intimal thickening with disruption of the...
6.
Harb J, Christensen C, Kan S, Rha A, Andrade-Heckman P, Pollard L, et al.
Mol Ther Nucleic Acids
. 2023 Sep;
34:102022.
PMID: 37727271
Free sialic acid storage disorders (FSASDs) result from pathogenic variations in the gene, which encodes the lysosomal transmembrane protein sialin. Loss or deficiency of sialin impairs FSA transport out of...
7.
Christensen C, Heckman P, Rha A, Kan S, Harb J, Wang R
Stem Cell Res
. 2023 May;
69:103117.
PMID: 37167752
Pompe disease is an autosomal recessive lysosomal storage disease caused by pathogenic variants in GAA, which encodes an enzyme integral to glycogen catabolism, acid α-glucosidase. Disease-relevant cell lines are necessary...
8.
Kan S, Huang J, Harb J, Rha A, Dalton N, Christensen C, et al.
Sci Rep
. 2022 Dec;
12(1):21576.
PMID: 36517654
Pompe disease, an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), is characterized by accumulation of intra-lysosomal glycogen in skeletal and oftentimes cardiac muscle. The c.1935C>A (p.Asp645Glu) variant,...
9.
Pearse Y, Clarke D, Kan S, Le S, Sanghez V, Luzzi A, et al.
Mol Ther Methods Clin Dev
. 2022 Nov;
27:452-463.
PMID: 36419468
Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB) is a recessive genetic disorder that severely affects the brain due to a deficiency in the enzyme α--acetylglucosaminidase (NAGLU), leading to intra-lysosomal accumulation...
10.
Tillo M, Lamanna W, Dwyer C, Sandoval D, Pessentheiner A, Al-Azzam N, et al.
J Biol Chem
. 2022 Jun;
298(8):102159.
PMID: 35750212
Lysosomal storage diseases result in various developmental and physiological complications, including cachexia. To study the causes for the negative energy balance associated with cachexia, we assessed the impact of sulfamidase...