Etiology
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,
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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,
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MPSI Study Group
N Engl J Med
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Ibraheim R,
Tai PWL,
Mir A,
Javeed N,
Wang J,
Rodríguez TC,
Namkung S,
Nelson S,
Khokhar ES,
Mintzer E,
Maitland S,
Chen Z,
Cao Y,
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Mol Genet Metab
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Khan SA,
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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.
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Diagnosis
Kumar P,
Das PC,
Das A
JAMA Dermatol
2022 Dec 1;158(12):1438.
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PMID: 36260294
Spahiu L,
Behluli E,
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Hadziselimovic R,
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Temaj G
Pediatr Endocrinol Diabetes Metab
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D'Avanzo F,
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Pediatr Int
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Valayannopoulos V,
Nicely H,
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Orphanet J Rare Dis
2010 Apr 12;5:5.
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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.
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PMID: 34788506
Okuyama T,
Eto Y,
Sakai N,
Nakamura K,
Yamamoto T,
Yamaoka M,
Ikeda T,
So S,
Tanizawa K,
Sonoda H,
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Mol Ther
2021 Feb 3;29(2):671-679.
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Kubaski F,
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Corte AD,
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Curr Pharm Des
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Sonoda H,
Morimoto H,
Yoden E,
Koshimura Y,
Kinoshita M,
Golovina G,
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Minami K,
Mizoguchi A,
Tachibana K,
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Prognosis
Verma S,
Pantoom S,
Petters J,
Pandey AK,
Hermann A,
Lukas J
Mutat Res Rev Mutat Res
2021 Jul-Dec;788:108392.
Epub 2021 Aug 8
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PMID: 34893157
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
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
Dias BMC,
Lanza FC,
Santos JD,
Aranda CS,
Solé D,
Martins AM,
Wandalsen GF
Pediatr Pulmonol
2022 Feb;57(2):538-543.
Epub 2021 Nov 11
doi: 10.1002/ppul.25750.
PMID: 34741588
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.
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PMID: 34788506
Parini R,
Deodato F
Int J Mol Sci
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Donati MA,
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Burlina A
Ital J Pediatr
2018 Nov 16;44(Suppl 2):126.
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PMID: 30442156Free PMC Article
Escolar ML,
Jones SA,
Shapiro EG,
Horovitz DDG,
Lampe C,
Amartino H
Mol Genet Metab
2017 Dec;122S:35-40.
Epub 2017 Sep 27
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PMID: 29170079