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mucopolysaccharidoses Ⅰ H相关文献:
Epidemiology of mucopolysaccharidoses.
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S.
Mol Genet Metab. 2017 Jul;121(3):227-240. doi: 10.1016/j.ymgme.2017.05.016. Epub 2017 May 26.
PMID:28595941
Mucopolysaccharidosis type I.
Wraith JE, Jones S.
Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:102-6.
PMID:25345091
Gene therapy for Mucopolysaccharidoses.
Sawamoto K, Chen HH, Alméciga-Díaz CJ, Mason RW, Tomatsu S.
Mol Genet Metab. 2018 Feb;123(2):59-68. doi: 10.1016/j.ymgme.2017.12.434. Epub 2017 Dec 26.
PMID:29295764
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Chien YH, Lee NC, Chen PW, Yeh HY, Gelb MH, Chiu PC, Chu SY, Lee CH, Lee AR, Hwu WL.
Orphanet J Rare Dis. 2020 Feb 3;15(1):38. doi: 10.1186/s13023-020-1322-z.
PMID:32014045
Mucopolysaccharidoses type I gene therapy.
Hurt SC, Dickson PI, Curiel DT.
J Inherit Metab Dis. 2021 Sep;44(5):1088-1098. doi: 10.1002/jimd.12414. Epub 2021 Jul 9.
PMID:34189746
Current and new therapies for mucopolysaccharidoses.
Penon-Portmann M, Blair DR, Harmatz P.
Pediatr Neonatol. 2023 Feb;64 Suppl 1:S10-S17. doi: 10.1016/j.pedneo.2022.10.001. Epub 2022 Oct 26.
PMID:36464587
Growth impairment in mucopolysaccharidoses.
Melbouci M, Mason RW, Suzuki Y, Fukao T, Orii T, Tomatsu S.
Mol Genet Metab. 2018 May;124(1):1-10. doi: 10.1016/j.ymgme.2018.03.004. Epub 2018 Mar 16.
PMID:29627275
Advances in glycosaminoglycan detection.
Khan SA, Mason RW, Kobayashi H, Yamaguchi S, Tomatsu S.
Mol Genet Metab. 2020 Jun;130(2):101-109. doi: 10.1016/j.ymgme.2020.03.004. Epub 2020 Mar 27.
PMID:32247585
Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.
Consiglieri G, Tucci F, De Pellegrin M, Guerrini B, Cattoni A, Risca G, Scarparo S, Sarzana M, Pontesilli S, Mellone R, Gasperini S, Galimberti S, Silvani P, Filisetti C, Darin S, Forni G, Miglietta S, Santi L, Facchini M, Corti A, Fumagalli F, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Recupero S, Canarutto D, Doglio M, Tedesco L, Volpi N, Rovelli A, la Marca G, Valsecchi MG, Zancan S, Ciceri F, Naldini L, Baldoli C, Parini R, Gentner B, Aiuti A, Bernardo ME.
Sci Transl Med. 2024 May;16(745):eadi8214. doi: 10.1126/scitranslmed.adi8214. Epub 2024 May 1.
PMID:38691622
Mucopolysaccharidosis IVA and glycosaminoglycans.
Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, Mason RW, Orii T, Tomatsu S.
Mol Genet Metab. 2017 Jan-Feb;120(1-2):78-95. doi: 10.1016/j.ymgme.2016.11.007. Epub 2016 Nov 29.
PMID:27979613
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