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mucopolysaccharidoses Ⅲ D相关文献:
Novel vectors and approaches for gene therapy in liver diseases.
Maestro S, Weber ND, Zabaleta N, Aldabe R, Gonzalez-Aseguinolaza G.
JHEP Rep. 2021 Apr 30;3(4):100300. doi: 10.1016/j.jhepr.2021.100300. eCollection 2021 Aug.
PMID:34159305
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
Pollard LM, Jones JR, Wood TC.
J Inherit Metab Dis. 2013 Mar;36(2):179-87. doi: 10.1007/s10545-012-9533-7. Epub 2012 Sep 14.
PMID:22976768
Multiple Sulfatase Deficiency.
Schlotawa L, Adang L, De Castro M, Ahrens-Nicklas R.
2019 Mar 21. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:30896912
Idursulfase: I2S, iduronato-2-sulfatase.
[No authors listed]
Drugs R D. 2006;7(4):254-8. doi: 10.2165/00126839-200607040-00005.
PMID:16784250
Mucopolysaccharidosis Type IVA.
Regier DS, Oetgen M, Tanpaiboon P.
2013 Jul 11 [updated 2021 Jun 17]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:23844448
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.
Barone R, Pellico A, Pittalà A, Gasperini S.
Ital J Pediatr. 2018 Nov 16;44(Suppl 2):121. doi: 10.1186/s13052-018-0561-2.
PMID:30442188
Glycan-based biomarkers for mucopolysaccharidoses.
Lawrence R, Brown JR, Lorey F, Dickson PI, Crawford BE, Esko JD.
Mol Genet Metab. 2014 Feb;111(2):73-83. doi: 10.1016/j.ymgme.2013.07.016. Epub 2013 Jul 29.
PMID:23958290
A Drosophila model of mucopolysaccharidosis IIIB.
Simkhada B, Nazario-Yepiz NO, Freymuth PS, Lyman RA, Shankar V, Wiggins K, Flanagan-Steet H, Basu A, Weiss RJ, Anholt RRH, Mackay TFC.
Genetics. 2025 Mar 17;229(3):iyae219. doi: 10.1093/genetics/iyae219.
PMID:39737777
Novel therapies for mucopolysaccharidosis type III.
Seker Yilmaz B, Davison J, Jones SA, Baruteau J.
J Inherit Metab Dis. 2021 Jan;44(1):129-147. doi: 10.1002/jimd.12316. Epub 2020 Sep 28.
PMID:32944950
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.
Muenzer J, Amartino H, Burton BK, Scarpa M, Tylki-Szymańska A, Audi J, Botha J, Fertek D, Merberg D, Natarajan M, Whiteman DAH, Giugliani R.
Mol Genet Metab. 2024 Sep-Oct;143(1-2):108576. doi: 10.1016/j.ymgme.2024.108576. Epub 2024 Sep 10.
PMID:39303318
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