Etiology
Wallom KL,
Fernández-Suárez ME,
Priestman DA,
Te Vruchte D,
Huebecker M,
Hallett PJ,
Isacson O,
Platt FM
Glycoconj J
2022 Feb;39(1):39-53.
Epub 2021 Nov 10
doi: 10.1007/s10719-021-10023-x.
PMID: 34757540Free PMC Article
McGovern MM,
Avetisyan R,
Sanson BJ,
Lidove O
Orphanet J Rare Dis
2017 Feb 23;12(1):41.
doi: 10.1186/s13023-017-0572-x.
PMID: 28228103Free PMC Article
Stirnemann J,
Belmatoug N,
Camou F,
Serratrice C,
Froissart R,
Caillaud C,
Levade T,
Astudillo L,
Serratrice J,
Brassier A,
Rose C,
Billette de Villemeur T,
Berger MG
Int J Mol Sci
2017 Feb 17;18(2)
doi: 10.3390/ijms18020441.
PMID: 28218669Free PMC Article
Colacurcio DJ,
Nixon RA
Ageing Res Rev
2016 Dec;32:75-88.
Epub 2016 May 16
doi: 10.1016/j.arr.2016.05.004.
PMID: 27197071Free PMC Article
Biffi A,
Montini E,
Lorioli L,
Cesani M,
Fumagalli F,
Plati T,
Baldoli C,
Martino S,
Calabria A,
Canale S,
Benedicenti F,
Vallanti G,
Biasco L,
Leo S,
Kabbara N,
Zanetti G,
Rizzo WB,
Mehta NA,
Cicalese MP,
Casiraghi M,
Boelens JJ,
Del Carro U,
Dow DJ,
Schmidt M,
Assanelli A,
Neduva V,
Di Serio C,
Stupka E,
Gardner J,
von Kalle C,
Bordignon C,
Ciceri F,
Rovelli A,
Roncarolo MG,
Aiuti A,
Sessa M,
Naldini L
Science
2013 Aug 23;341(6148):1233158.
Epub 2013 Jul 11
doi: 10.1126/science.1233158.
PMID: 23845948
Diagnosis
Özdemir GN,
Gündüz E
Turk J Haematol
2022 Jun 1;39(2):136-139.
Epub 2022 Apr 20
doi: 10.4274/tjh.galenos.2021.2021.0683.
PMID: 35439918Free PMC Article
Weinreb NJ,
Goker-Alpan O,
Kishnani PS,
Longo N,
Burrow TA,
Bernat JA,
Gupta P,
Henderson N,
Pedro H,
Prada CE,
Vats D,
Pathak RR,
Wright E,
Ficicioglu C
Mol Genet Metab
2022 May;136(1):4-21.
Epub 2022 Mar 9
doi: 10.1016/j.ymgme.2022.03.001.
PMID: 35367141
Lenders M,
Brand E
Drugs
2021 Apr;81(6):635-645.
Epub 2021 Mar 15
doi: 10.1007/s40265-021-01486-1.
PMID: 33721270Free PMC Article
Chan B,
Adam DN
Skin Therapy Lett
2018 Mar;23(2):4-6.
PMID: 29562089
Dandana A,
Ben Khelifa S,
Chahed H,
Miled A,
Ferchichi S
Pathobiology
2016;83(1):13-23.
Epub 2015 Nov 21
doi: 10.1159/000440865.
PMID: 26588331
Therapy
Shimizu T,
Schutt CR,
Izumi Y,
Tomiyasu N,
Omahdi Z,
Kano K,
Takamatsu H,
Aoki J,
Bamba T,
Kumanogoh A,
Takao M,
Yamasaki S
Immunity
2023 Feb 14;56(2):307-319.e8.
Epub 2023 Feb 2
doi: 10.1016/j.immuni.2023.01.008.
PMID: 36736320
Lenders M,
Brand E
Drugs
2021 Apr;81(6):635-645.
Epub 2021 Mar 15
doi: 10.1007/s40265-021-01486-1.
PMID: 33721270Free PMC Article
Sonoda H,
Morimoto H,
Yoden E,
Koshimura Y,
Kinoshita M,
Golovina G,
Takagi H,
Yamamoto R,
Minami K,
Mizoguchi A,
Tachibana K,
Hirato T,
Takahashi K
Mol Ther
2018 May 2;26(5):1366-1374.
Epub 2018 Mar 6
doi: 10.1016/j.ymthe.2018.02.032.
PMID: 29606503Free PMC Article
Chan B,
Adam DN
Skin Therapy Lett
2018 Mar;23(2):4-6.
PMID: 29562089
Dandana A,
Ben Khelifa S,
Chahed H,
Miled A,
Ferchichi S
Pathobiology
2016;83(1):13-23.
Epub 2015 Nov 21
doi: 10.1159/000440865.
PMID: 26588331
Prognosis
Weinreb NJ,
Goker-Alpan O,
Kishnani PS,
Longo N,
Burrow TA,
Bernat JA,
Gupta P,
Henderson N,
Pedro H,
Prada CE,
Vats D,
Pathak RR,
Wright E,
Ficicioglu C
Mol Genet Metab
2022 May;136(1):4-21.
Epub 2022 Mar 9
doi: 10.1016/j.ymgme.2022.03.001.
PMID: 35367141
Bradbury AM,
Bongarzone ER,
Sands MS
Neurosci Lett
2021 May 1;752:135841.
Epub 2021 Mar 22
doi: 10.1016/j.neulet.2021.135841.
PMID: 33766733Free PMC Article
McGovern MM,
Avetisyan R,
Sanson BJ,
Lidove O
Orphanet J Rare Dis
2017 Feb 23;12(1):41.
doi: 10.1186/s13023-017-0572-x.
PMID: 28228103Free PMC Article
Stirnemann J,
Belmatoug N,
Camou F,
Serratrice C,
Froissart R,
Caillaud C,
Levade T,
Astudillo L,
Serratrice J,
Brassier A,
Rose C,
Billette de Villemeur T,
Berger MG
Int J Mol Sci
2017 Feb 17;18(2)
doi: 10.3390/ijms18020441.
PMID: 28218669Free PMC Article
Biffi A,
Montini E,
Lorioli L,
Cesani M,
Fumagalli F,
Plati T,
Baldoli C,
Martino S,
Calabria A,
Canale S,
Benedicenti F,
Vallanti G,
Biasco L,
Leo S,
Kabbara N,
Zanetti G,
Rizzo WB,
Mehta NA,
Cicalese MP,
Casiraghi M,
Boelens JJ,
Del Carro U,
Dow DJ,
Schmidt M,
Assanelli A,
Neduva V,
Di Serio C,
Stupka E,
Gardner J,
von Kalle C,
Bordignon C,
Ciceri F,
Rovelli A,
Roncarolo MG,
Aiuti A,
Sessa M,
Naldini L
Science
2013 Aug 23;341(6148):1233158.
Epub 2013 Jul 11
doi: 10.1126/science.1233158.
PMID: 23845948
Clinical prediction guides
Shimizu T,
Schutt CR,
Izumi Y,
Tomiyasu N,
Omahdi Z,
Kano K,
Takamatsu H,
Aoki J,
Bamba T,
Kumanogoh A,
Takao M,
Yamasaki S
Immunity
2023 Feb 14;56(2):307-319.e8.
Epub 2023 Feb 2
doi: 10.1016/j.immuni.2023.01.008.
PMID: 36736320
Weinreb NJ,
Goker-Alpan O,
Kishnani PS,
Longo N,
Burrow TA,
Bernat JA,
Gupta P,
Henderson N,
Pedro H,
Prada CE,
Vats D,
Pathak RR,
Wright E,
Ficicioglu C
Mol Genet Metab
2022 May;136(1):4-21.
Epub 2022 Mar 9
doi: 10.1016/j.ymgme.2022.03.001.
PMID: 35367141
van Gool R,
Tucker-Bartley A,
Yang E,
Todd N,
Guenther F,
Goodlett B,
Al-Hertani W,
Bodamer OA,
Upadhyay J
Trends Pharmacol Sci
2022 Jun;43(6):495-509.
Epub 2021 Nov 27
doi: 10.1016/j.tips.2021.11.005.
PMID: 34844772
Gimovsky AC,
Luzi P,
Berghella V
Am J Obstet Gynecol
2015 Mar;212(3):281-90.
Epub 2014 Oct 8
doi: 10.1016/j.ajog.2014.10.007.
PMID: 25305402
Biffi A,
Montini E,
Lorioli L,
Cesani M,
Fumagalli F,
Plati T,
Baldoli C,
Martino S,
Calabria A,
Canale S,
Benedicenti F,
Vallanti G,
Biasco L,
Leo S,
Kabbara N,
Zanetti G,
Rizzo WB,
Mehta NA,
Cicalese MP,
Casiraghi M,
Boelens JJ,
Del Carro U,
Dow DJ,
Schmidt M,
Assanelli A,
Neduva V,
Di Serio C,
Stupka E,
Gardner J,
von Kalle C,
Bordignon C,
Ciceri F,
Rovelli A,
Roncarolo MG,
Aiuti A,
Sessa M,
Naldini L
Science
2013 Aug 23;341(6148):1233158.
Epub 2013 Jul 11
doi: 10.1126/science.1233158.
PMID: 23845948