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.
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Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
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N Engl J Med. 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596.
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Orphanet J Rare Dis. 2020 Feb 3;15(1):38. doi: 10.1186/s13023-020-1322-z.
Genotype-phenotype findings in patients with mucopolysaccharidosis II from the Hunter Outcome Survey.
Muenzer J, Amartino H, Burton BK, Scarpa M, Tylki-Szymańska A, Audi J, Botha J, Fertek D, Merberg D, Natarajan M, Whiteman DAH, Giugliani R.
Mol Genet Metab. 2024 Sep-Oct;143(1-2):108576. doi: 10.1016/j.ymgme.2024.108576. Epub 2024 Sep 10.
Saber-sheath Tracheal Deformity.
Kandil A, Chutipongtanate A, Wood RE, Mahmoud M.
Anesthesiology. 2018 Oct;129(4):811. doi: 10.1097/ALN.0000000000002268.
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.
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.
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.
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