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mucopolysaccharidoses Ⅲ B相关文献:
Sanfilippo syndrome: consensus guidelines for clinical care.
Muschol N, Giugliani R, Jones SA, Muenzer J, Smith NJC, Whitley CB, Donnell M, Drake E, Elvidge K, Melton L, O'Neill C; MPS III Guideline Development Group.
Orphanet J Rare Dis. 2022 Oct 27;17(1):391. doi: 10.1186/s13023-022-02484-6.
PMID:36303195
Misdiagnosis in mucopolysaccharidoses.
Wiśniewska K, Wolski J, Gaffke L, Cyske Z, Pierzynowska K, Węgrzyn G.
J Appl Genet. 2022 Sep;63(3):475-495. doi: 10.1007/s13353-022-00703-1. Epub 2022 May 13.
PMID:35562626
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group.
N Engl J Med. 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596.
PMID:34788506
Bow Hunter's Syndrome.
Regenhardt RW, Kozberg MG, Dmytriw AA, Vranic JE, Stapleton CJ, Silverman SB, Patel AB.
Stroke. 2022 Jan;53(1):e26-e29. doi: 10.1161/STROKEAHA.121.037253. Epub 2021 Dec 6.
PMID:34865507
Oxidative Stress in Mucopolysaccharidoses: Pharmacological Implications.
Pierzynowska K, Gaffke L, Cyske Z, Węgrzyn G, Buttari B, Profumo E, Saso L.
Molecules. 2021 Sep 16;26(18):5616. doi: 10.3390/molecules26185616.
PMID:34577086
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S.
Orphanet J Rare Dis. 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5.
PMID:20385007
Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A.
Ital J Pediatr. 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3.
PMID:30442156
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
Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.
Harmatz P, Shediac R.
Front Biosci (Landmark Ed). 2017 Jan 1;22(3):385-406. doi: 10.2741/4490.
PMID:27814620
Nanotechnology applied to treatment of mucopolysaccharidoses.
Schuh RS, Baldo G, Teixeira HF.
Expert Opin Drug Deliv. 2016 Dec;13(12):1709-1718. doi: 10.1080/17425247.2016.1202235. Epub 2016 Jun 30.
PMID:27322551
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