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.
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.
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.
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.
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.
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.
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.
Anti-amyloid treatment is broadly effective in neuronopathic mucopolysaccharidoses and synergizes with gene therapy in MPS-IIIA.
Giaccio M, Monaco A, Galiano L, Parente A, Borzacchiello L, Rubino R, Klärner FG, Killa D, Perna C, Piccolo P, Marotta M, Pan X, Khijniak M, Siddique I, Schrader T, Pshezhetsky AV, Sorrentino NC, Bitan G, Fraldi A.
Mol Ther. 2024 Nov 6;32(11):4108-4121. doi: 10.1016/j.ymthe.2024.09.030. Epub 2024 Sep 28.
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.
Anakinra in Sanfilippo syndrome: a phase 1/2 trial.
Polgreen LE, Chen AH, Pak Y, Luzzi A, Morales Garval A, Acevedo J, Bitan G, Iacovino M, O'Neill C, Eisengart JB.
Nat Med. 2024 Sep;30(9):2473-2479. doi: 10.1038/s41591-024-03079-3. Epub 2024 Jun 21.
