Etiology
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: 36303195Free PMC Article
Moretto A,
Bosatra MG,
Marchesini L,
Tesoro S
Ital J Pediatr
2018 Nov 16;44(Suppl 2):116.
doi: 10.1186/s13052-018-0554-1.
PMID: 30442160Free PMC Article
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: 30442156Free PMC Article
Wraith JE,
Jones S
Pediatr Endocrinol Rev
2014 Sep;12 Suppl 1:102-6.
PMID: 25345091
Cormier-Daire V
Best Pract Res Clin Rheumatol
2008 Mar;22(1):33-44.
doi: 10.1016/j.berh.2007.12.009.
PMID: 18328979
Diagnosis
Kumar P,
Das PC,
Das A
JAMA Dermatol
2022 Dec 1;158(12):1438.
doi: 10.1001/jamadermatol.2022.4049.
PMID: 36260294
Spahiu L,
Behluli E,
Peterlin B,
Nefic H,
Hadziselimovic R,
Liehr T,
Temaj G
Pediatr Endocrinol Diabetes Metab
2021;27(3):201-208.
doi: 10.5114/pedm.2021.109270.
PMID: 34743503Free PMC Article
D'Avanzo F,
Rigon L,
Zanetti A,
Tomanin R
Int J Mol Sci
2020 Feb 13;21(4)
doi: 10.3390/ijms21041258.
PMID: 32070051Free PMC Article
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.
Epub 2016 Nov 29
doi: 10.1016/j.ymgme.2016.11.007.
PMID: 27979613Free PMC Article
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: 20385007Free PMC Article
Therapy
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
Moretto A,
Bosatra MG,
Marchesini L,
Tesoro S
Ital J Pediatr
2018 Nov 16;44(Suppl 2):116.
doi: 10.1186/s13052-018-0554-1.
PMID: 30442160Free PMC Article
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.
Epub 2016 Nov 29
doi: 10.1016/j.ymgme.2016.11.007.
PMID: 27979613Free PMC Article
Haddley K
Drugs Today (Barc)
2014 Jul;50(7):475-83.
doi: 10.1358/dot.2014.50.7.2177904.
PMID: 25101330
BioDrugs
2002;16(4):316-8.
doi: 10.2165/00063030-200216040-00009.
PMID: 12196045
Prognosis
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
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: 30442156Free PMC Article
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.
Epub 2017 May 26
doi: 10.1016/j.ymgme.2017.05.016.
PMID: 28595941Free PMC Article
Jakobkiewicz-Banecka J,
Gabig-Ciminska M,
Kloska A,
Malinowska M,
Piotrowska E,
Banecka-Majkutewicz Z,
Banecki B,
Wegrzyn A,
Wegrzyn G
Front Biosci (Landmark Ed)
2016 Jun 1;21(7):1393-409.
doi: 10.2741/4463.
PMID: 27100513
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: 20385007Free PMC Article
Clinical prediction guides
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.
Epub 2024 May 1
doi: 10.1126/scitranslmed.adi8214.
PMID: 38691622
Leal AF,
Alméciga-Díaz CJ,
Tomatsu S
Int J Mol Sci
2023 Nov 9;24(22)
doi: 10.3390/ijms242216148.
PMID: 38003337Free PMC Article
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: 30442156Free PMC Article
Poletto E,
Pasqualim G,
Giugliani R,
Matte U,
Baldo G
Clin Genet
2018 Jul;94(1):95-102.
Epub 2018 Apr 11
doi: 10.1111/cge.13224.
PMID: 29393969
Jakobkiewicz-Banecka J,
Gabig-Ciminska M,
Kloska A,
Malinowska M,
Piotrowska E,
Banecka-Majkutewicz Z,
Banecki B,
Wegrzyn A,
Wegrzyn G
Front Biosci (Landmark Ed)
2016 Jun 1;21(7):1393-409.
doi: 10.2741/4463.
PMID: 27100513