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Scheie syndrome相关文献:
Heart valve disease in Hurler-Scheie syndrome.
García Del Rey MDC, Castrodeza J, Pinto Á, Espinosa Castro MÁ, Muñoz Delgado C, Fernández-Avilés F.
Cardiol J. 2022;29(5):875-877. doi: 10.5603/CJ.a2022.0066. Epub 2022 Jul 12.
PMID:35818796
Alterations in Hurler-Scheie Syndrome Revealed by Mass Spectrometry-Based Proteomics and Phosphoproteomics Analysis.
Ramarajan MG, Parthasarathy KTS, Gaikwad KB, Joshi N, Garapati K, Kandasamy RK, Sharma J, Pandey A.
OMICS. 2024 Nov;28(11):548-562. doi: 10.1089/omi.2024.0171. Epub 2024 Oct 29.
PMID:39469785
Hurler-Scheie syndrome in Niger: a case series.
Assadeck H, Toudou Daouda M, Bako H, Hassane Djibo F.
J Med Case Rep. 2019 Apr 25;13(1):102. doi: 10.1186/s13256-019-2047-2.
PMID:31018863
Scleral Histopathologic Findings of Hurler-Scheie Syndrome With Refractory Glaucoma.
Dolezal KA, Jacobson A, Besirli CG, Elner V, Bohnsack BL.
JAMA Ophthalmol. 2022 Mar 1;140(3):285-287. doi: 10.1001/jamaophthalmol.2021.5806.
PMID:35050321
Aortic stenosis associated with Scheie's syndrome. Report of successful valve replacement.
Masuda H, Morishita Y, Taira A, Kuriyama M.
Chest. 1993 Mar;103(3):968-70. doi: 10.1378/chest.103.3.968.
PMID:8449111
Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I).
Pastores GM, Meere PA.
Curr Opin Rheumatol. 2005 Jan;17(1):70-8. doi: 10.1097/01.bor.0000147283.40529.13.
PMID:15604908
[Hurler syndrome(MPS IH), Scheie syndrome(MPS IS)].
Matsushita Y, Kuroiwa Y.
Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):460-1.
PMID:11031992
Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency).
Keith O, Scully C, Weidmann GM.
Oral Surg Oral Med Oral Pathol. 1990 Jul;70(1):70-4. doi: 10.1016/0030-4220(90)90181-q.
PMID:2115154
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
Articular manifestations of Scheie's syndrome.
Hamilton E, Pitt P.
Ann Rheum Dis. 1992 Apr;51(4):542-3. doi: 10.1136/ard.51.4.542.
PMID:1586259
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