Etiology
Cappellini MD,
Motta I,
Barbato A,
Giuffrida G,
Manna R,
Carubbi F,
Giona F
Eur J Intern Med
2023 Feb;108:81-84.
Epub 2022 Nov 26
doi: 10.1016/j.ejim.2022.11.028.
PMID: 36443133
Diaz GA,
Giugliani R,
Guffon N,
Jones SA,
Mengel E,
Scarpa M,
Witters P,
Yarramaneni A,
Li J,
Armstrong NM,
Kim Y,
Ortemann-Renon C,
Kumar M
Orphanet J Rare Dis
2022 Dec 14;17(1):437.
doi: 10.1186/s13023-022-02587-0.
PMID: 36517856Free PMC Article
Wasserstein M,
Lachmann R,
Hollak C,
Arash-Kaps L,
Barbato A,
Gallagher RC,
Giugliani R,
Guelbert NB,
Ikezoe T,
Lidove O,
Mabe P,
Mengel E,
Scarpa M,
Senates E,
Tchan M,
Villarrubia J,
Chen Y,
Furey S,
Thurberg BL,
Zaher A,
Kumar M
Genet Med
2022 Jul;24(7):1425-1436.
Epub 2022 Apr 26
doi: 10.1016/j.gim.2022.03.021.
PMID: 35471153
Wasserstein M,
Dionisi-Vici C,
Giugliani R,
Hwu WL,
Lidove O,
Lukacs Z,
Mengel E,
Mistry PK,
Schuchman EH,
McGovern M
Mol Genet Metab
2019 Feb;126(2):98-105.
Epub 2018 Nov 29
doi: 10.1016/j.ymgme.2018.11.014.
PMID: 30514648Free 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
Diagnosis
Geberhiwot T,
Wasserstein M,
Wanninayake S,
Bolton SC,
Dardis A,
Lehman A,
Lidove O,
Dawson C,
Giugliani R,
Imrie J,
Hopkin J,
Green J,
de Vicente Corbeira D,
Madathil S,
Mengel E,
Ezgü F,
Pettazzoni M,
Sjouke B,
Hollak C,
Vanier MT,
McGovern M,
Schuchman E
Orphanet J Rare Dis
2023 Apr 17;18(1):85.
doi: 10.1186/s13023-023-02686-6.
PMID: 37069638Free PMC Article
Kubaski F,
Burlina A,
Pereira D,
Silva C,
Herbst ZM,
Trapp FB,
Michelin-Tirelli K,
Lopes FF,
Burin MG,
Brusius-Facchin AC,
Netto ABO,
Poletto E,
Bernardes TM,
Carvalho GS,
Sorte NB,
Ferreira FN,
Perin N,
Clivati MR,
de Santana MTS,
Lobos SFG,
Leão EKEA,
Coutinho MP,
Pinos PV,
Santos MLSF,
Penatti DA,
Lourenço CM,
Polo G,
Giugliani R
Orphanet J Rare Dis
2022 Nov 8;17(1):407.
doi: 10.1186/s13023-022-02560-x.
PMID: 36348386Free PMC Article
Pinto C,
Sousa D,
Ghilas V,
Dardis A,
Scarpa M,
Macedo MF
Int J Mol Sci
2021 Nov 28;22(23)
doi: 10.3390/ijms222312870.
PMID: 34884674Free PMC Article
Hu J,
Maegawa GHB,
Zhan X,
Gao X,
Wang Y,
Xu F,
Qiu W,
Han L,
Gu X,
Zhang H
Hum Mutat
2021 May;42(5):614-625.
Epub 2021 Mar 19
doi: 10.1002/humu.24192.
PMID: 33675270
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
Therapy
Halseth TA,
Correia AB,
Schultz ML,
Fawaz MV,
Kuiper EQ,
Kumaran P,
Dorsey KH,
Schuchman EH,
Lieberman AP,
Schwendeman A
Nanomedicine
2023 Sep;53:102705.
Epub 2023 Aug 24
doi: 10.1016/j.nano.2023.102705.
PMID: 37633404Free PMC Article
Lachmann RH,
Diaz GA,
Wasserstein MP,
Armstrong NM,
Yarramaneni A,
Kim Y,
Kumar M
Orphanet J Rare Dis
2023 Apr 25;18(1):94.
doi: 10.1186/s13023-023-02700-x.
PMID: 37098529Free PMC Article
Keam SJ
Drugs
2022 Jun;82(8):941-947.
doi: 10.1007/s40265-022-01727-x.
PMID: 35639287
Wasserstein M,
Lachmann R,
Hollak C,
Arash-Kaps L,
Barbato A,
Gallagher RC,
Giugliani R,
Guelbert NB,
Ikezoe T,
Lidove O,
Mabe P,
Mengel E,
Scarpa M,
Senates E,
Tchan M,
Villarrubia J,
Chen Y,
Furey S,
Thurberg BL,
Zaher A,
Kumar M
Genet Med
2022 Jul;24(7):1425-1436.
Epub 2022 Apr 26
doi: 10.1016/j.gim.2022.03.021.
PMID: 35471153
Pinto C,
Sousa D,
Ghilas V,
Dardis A,
Scarpa M,
Macedo MF
Int J Mol Sci
2021 Nov 28;22(23)
doi: 10.3390/ijms222312870.
PMID: 34884674Free PMC Article
Prognosis
Gomez-Mariano G,
Perez-Luz S,
Ramos-Del Saz S,
Matamala N,
Hernandez-SanMiguel E,
Fernandez-Prieto M,
Gil-Martin S,
Justo I,
Marcacuzco A,
Martinez-Delgado B
Int J Mol Sci
2023 Aug 10;24(16)
doi: 10.3390/ijms241612645.
PMID: 37628828Free PMC Article
Wasserstein M,
Lachmann R,
Hollak C,
Arash-Kaps L,
Barbato A,
Gallagher RC,
Giugliani R,
Guelbert NB,
Ikezoe T,
Lidove O,
Mabe P,
Mengel E,
Scarpa M,
Senates E,
Tchan M,
Villarrubia J,
Chen Y,
Furey S,
Thurberg BL,
Zaher A,
Kumar M
Genet Med
2022 Jul;24(7):1425-1436.
Epub 2022 Apr 26
doi: 10.1016/j.gim.2022.03.021.
PMID: 35471153
Hu J,
Maegawa GHB,
Zhan X,
Gao X,
Wang Y,
Xu F,
Qiu W,
Han L,
Gu X,
Zhang H
Hum Mutat
2021 May;42(5):614-625.
Epub 2021 Mar 19
doi: 10.1002/humu.24192.
PMID: 33675270
Eskes ECB,
Sjouke B,
Vaz FM,
Goorden SMI,
van Kuilenburg ABP,
Aerts JMFG,
Hollak CEM
Mol Genet Metab
2020 May;130(1):16-26.
Epub 2020 Feb 12
doi: 10.1016/j.ymgme.2020.02.002.
PMID: 32088119
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
Clinical prediction guides
Halseth TA,
Correia AB,
Schultz ML,
Fawaz MV,
Kuiper EQ,
Kumaran P,
Dorsey KH,
Schuchman EH,
Lieberman AP,
Schwendeman A
Nanomedicine
2023 Sep;53:102705.
Epub 2023 Aug 24
doi: 10.1016/j.nano.2023.102705.
PMID: 37633404Free PMC Article
Gomez-Mariano G,
Perez-Luz S,
Ramos-Del Saz S,
Matamala N,
Hernandez-SanMiguel E,
Fernandez-Prieto M,
Gil-Martin S,
Justo I,
Marcacuzco A,
Martinez-Delgado B
Int J Mol Sci
2023 Aug 10;24(16)
doi: 10.3390/ijms241612645.
PMID: 37628828Free PMC Article
Wasserstein M,
Lachmann R,
Hollak C,
Arash-Kaps L,
Barbato A,
Gallagher RC,
Giugliani R,
Guelbert NB,
Ikezoe T,
Lidove O,
Mabe P,
Mengel E,
Scarpa M,
Senates E,
Tchan M,
Villarrubia J,
Chen Y,
Furey S,
Thurberg BL,
Zaher A,
Kumar M
Genet Med
2022 Jul;24(7):1425-1436.
Epub 2022 Apr 26
doi: 10.1016/j.gim.2022.03.021.
PMID: 35471153
Jones SA,
McGovern M,
Lidove O,
Giugliani R,
Mistry PK,
Dionisi-Vici C,
Munoz-Rojas MV,
Nalysnyk L,
Schecter AD,
Wasserstein M
Mol Genet Metab
2020 Sep-Oct;131(1-2):116-123.
Epub 2020 Jun 24
doi: 10.1016/j.ymgme.2020.06.008.
PMID: 32616389
Eskes ECB,
Sjouke B,
Vaz FM,
Goorden SMI,
van Kuilenburg ABP,
Aerts JMFG,
Hollak CEM
Mol Genet Metab
2020 May;130(1):16-26.
Epub 2020 Feb 12
doi: 10.1016/j.ymgme.2020.02.002.
PMID: 32088119