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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
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
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
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
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Lipiński P, Różdżyńska-Świątkowska A, Wiśniewska K, Rusecka J, Ługowska A, Żuber Z, Jezela-Stanek A, Cyske Z, Gaffke L, Pierzynowska K, Węgrzyn G, Tylki-Szymańska A.
Biomolecules. 2025 Oct 14;15(10):1448. doi: 10.3390/biom15101448.
PMID:41154677
Rare disease therapeutics: The future of medical genetics in a changing landscape.
Connolly CD, Quinonez SC, Ames EG.
Genet Med. 2023 Feb;25(2):100339. doi: 10.1016/j.gim.2022.11.007. Epub 2022 Dec 7.
PMID:36476402
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