Etiology
Fejzo M,
Rocha N,
Cimino I,
Lockhart SM,
Petry CJ,
Kay RG,
Burling K,
Barker P,
George AL,
Yasara N,
Premawardhena A,
Gong S,
Cook E,
Rimmington D,
Rainbow K,
Withers DJ,
Cortessis V,
Mullin PM,
MacGibbon KW,
Jin E,
Kam A,
Campbell A,
Polasek O,
Tzoneva G,
Gribble FM,
Yeo GSH,
Lam BYH,
Saudek V,
Hughes IA,
Ong KK,
Perry JRB,
Sutton Cole A,
Baumgarten M,
Welsh P,
Sattar N,
Smith GCS,
Charnock-Jones DS,
Coll AP,
Meek CL,
Mettananda S,
Hayward C,
Mancuso N,
O'Rahilly S
Nature
2024 Jan;625(7996):760-767.
Epub 2023 Dec 13
doi: 10.1038/s41586-023-06921-9.
PMID: 38092039Free PMC Article
Segura EER,
Ayoub PG,
Hart KL,
Kohn DB
Viruses
2023 Mar 9;15(3)
doi: 10.3390/v15030713.
PMID: 36992422Free PMC Article
Thompson AA,
Walters MC,
Kwiatkowski J,
Rasko JEJ,
Ribeil JA,
Hongeng S,
Magrin E,
Schiller GJ,
Payen E,
Semeraro M,
Moshous D,
Lefrere F,
Puy H,
Bourget P,
Magnani A,
Caccavelli L,
Diana JS,
Suarez F,
Monpoux F,
Brousse V,
Poirot C,
Brouzes C,
Meritet JF,
Pondarré C,
Beuzard Y,
Chrétien S,
Lefebvre T,
Teachey DT,
Anurathapan U,
Ho PJ,
von Kalle C,
Kletzel M,
Vichinsky E,
Soni S,
Veres G,
Negre O,
Ross RW,
Davidson D,
Petrusich A,
Sandler L,
Asmal M,
Hermine O,
De Montalembert M,
Hacein-Bey-Abina S,
Blanche S,
Leboulch P,
Cavazzana M
N Engl J Med
2018 Apr 19;378(16):1479-1493.
doi: 10.1056/NEJMoa1705342.
PMID: 29669226
Galanello R,
Origa R
Orphanet J Rare Dis
2010 May 21;5:11.
doi: 10.1186/1750-1172-5-11.
PMID: 20492708Free PMC Article
Cao A,
Galanello R
Genet Med
2010 Feb;12(2):61-76.
doi: 10.1097/GIM.0b013e3181cd68ed.
PMID: 20098328
Diagnosis
Fejzo M,
Rocha N,
Cimino I,
Lockhart SM,
Petry CJ,
Kay RG,
Burling K,
Barker P,
George AL,
Yasara N,
Premawardhena A,
Gong S,
Cook E,
Rimmington D,
Rainbow K,
Withers DJ,
Cortessis V,
Mullin PM,
MacGibbon KW,
Jin E,
Kam A,
Campbell A,
Polasek O,
Tzoneva G,
Gribble FM,
Yeo GSH,
Lam BYH,
Saudek V,
Hughes IA,
Ong KK,
Perry JRB,
Sutton Cole A,
Baumgarten M,
Welsh P,
Sattar N,
Smith GCS,
Charnock-Jones DS,
Coll AP,
Meek CL,
Mettananda S,
Hayward C,
Mancuso N,
O'Rahilly S
Nature
2024 Jan;625(7996):760-767.
Epub 2023 Dec 13
doi: 10.1038/s41586-023-06921-9.
PMID: 38092039Free PMC Article
Wang F,
Ling L,
Yu D
Am J Med Sci
2021 Jul;362(1):5-12.
Epub 2021 Feb 16
doi: 10.1016/j.amjms.2021.02.011.
PMID: 33600783
Origa R
Genet Med
2017 Jun;19(6):609-619.
Epub 2016 Nov 3
doi: 10.1038/gim.2016.173.
PMID: 27811859
Galanello R,
Origa R
Orphanet J Rare Dis
2010 May 21;5:11.
doi: 10.1186/1750-1172-5-11.
PMID: 20492708Free PMC Article
Cao A,
Galanello R
Genet Med
2010 Feb;12(2):61-76.
doi: 10.1097/GIM.0b013e3181cd68ed.
PMID: 20098328
Therapy
Lee YC,
Yen CT,
Lee YL,
Chen RJ
Int J Mol Sci
2022 Sep 5;23(17)
doi: 10.3390/ijms231710189.
PMID: 36077584Free PMC Article
Magrin E,
Semeraro M,
Hebert N,
Joseph L,
Magnani A,
Chalumeau A,
Gabrion A,
Roudaut C,
Marouene J,
Lefrere F,
Diana JS,
Denis A,
Neven B,
Funck-Brentano I,
Negre O,
Renolleau S,
Brousse V,
Kiger L,
Touzot F,
Poirot C,
Bourget P,
El Nemer W,
Blanche S,
Tréluyer JM,
Asmal M,
Walls C,
Beuzard Y,
Schmidt M,
Hacein-Bey-Abina S,
Asnafi V,
Guichard I,
Poirée M,
Monpoux F,
Touraine P,
Brouzes C,
de Montalembert M,
Payen E,
Six E,
Ribeil JA,
Miccio A,
Bartolucci P,
Leboulch P,
Cavazzana M
Nat Med
2022 Jan;28(1):81-88.
Epub 2022 Jan 24
doi: 10.1038/s41591-021-01650-w.
PMID: 35075288
Niihara Y,
Miller ST,
Kanter J,
Lanzkron S,
Smith WR,
Hsu LL,
Gordeuk VR,
Viswanathan K,
Sarnaik S,
Osunkwo I,
Guillaume E,
Sadanandan S,
Sieger L,
Lasky JL,
Panosyan EH,
Blake OA,
New TN,
Bellevue R,
Tran LT,
Razon RL,
Stark CW,
Neumayr LD,
Vichinsky EP;
Investigators of the Phase 3 Trial of l-Glutamine in Sickle Cell Disease
N Engl J Med
2018 Jul 19;379(3):226-235.
doi: 10.1056/NEJMoa1715971.
PMID: 30021096
Thompson AA,
Walters MC,
Kwiatkowski J,
Rasko JEJ,
Ribeil JA,
Hongeng S,
Magrin E,
Schiller GJ,
Payen E,
Semeraro M,
Moshous D,
Lefrere F,
Puy H,
Bourget P,
Magnani A,
Caccavelli L,
Diana JS,
Suarez F,
Monpoux F,
Brousse V,
Poirot C,
Brouzes C,
Meritet JF,
Pondarré C,
Beuzard Y,
Chrétien S,
Lefebvre T,
Teachey DT,
Anurathapan U,
Ho PJ,
von Kalle C,
Kletzel M,
Vichinsky E,
Soni S,
Veres G,
Negre O,
Ross RW,
Davidson D,
Petrusich A,
Sandler L,
Asmal M,
Hermine O,
De Montalembert M,
Hacein-Bey-Abina S,
Blanche S,
Leboulch P,
Cavazzana M
N Engl J Med
2018 Apr 19;378(16):1479-1493.
doi: 10.1056/NEJMoa1705342.
PMID: 29669226
Dong AC,
Rivella S
Adv Exp Med Biol
2017;1013:155-176.
doi: 10.1007/978-1-4939-7299-9_6.
PMID: 29127680Free PMC Article
Prognosis
Wang F,
Ling L,
Yu D
Am J Med Sci
2021 Jul;362(1):5-12.
Epub 2021 Feb 16
doi: 10.1016/j.amjms.2021.02.011.
PMID: 33600783
Eapen M,
Brazauskas R,
Walters MC,
Bernaudin F,
Bo-Subait K,
Fitzhugh CD,
Hankins JS,
Kanter J,
Meerpohl JJ,
Bolaños-Meade J,
Panepinto JA,
Rondelli D,
Shenoy S,
Williamson J,
Woolford TL,
Gluckman E,
Wagner JE,
Tisdale JF
Lancet Haematol
2019 Nov;6(11):e585-e596.
Epub 2019 Sep 5
doi: 10.1016/S2352-3026(19)30154-1.
PMID: 31495699Free PMC Article
Venugopal A,
Chandran M,
Eruppakotte N,
Kizhakkillach S,
Breezevilla SC,
Vellingiri B
Mutat Res Rev Mutat Res
2018 Apr-Jun;776:23-31.
Epub 2018 Mar 17
doi: 10.1016/j.mrrev.2018.03.003.
PMID: 29807575
Goonasekera HW,
Paththinige CS,
Dissanayake VHW
Annu Rev Genomics Hum Genet
2018 Aug 31;19:355-380.
Epub 2018 May 11
doi: 10.1146/annurev-genom-091416-035451.
PMID: 29751732
Galanello R,
Origa R
Orphanet J Rare Dis
2010 May 21;5:11.
doi: 10.1186/1750-1172-5-11.
PMID: 20492708Free PMC Article
Clinical prediction guides
Magrin E,
Semeraro M,
Hebert N,
Joseph L,
Magnani A,
Chalumeau A,
Gabrion A,
Roudaut C,
Marouene J,
Lefrere F,
Diana JS,
Denis A,
Neven B,
Funck-Brentano I,
Negre O,
Renolleau S,
Brousse V,
Kiger L,
Touzot F,
Poirot C,
Bourget P,
El Nemer W,
Blanche S,
Tréluyer JM,
Asmal M,
Walls C,
Beuzard Y,
Schmidt M,
Hacein-Bey-Abina S,
Asnafi V,
Guichard I,
Poirée M,
Monpoux F,
Touraine P,
Brouzes C,
de Montalembert M,
Payen E,
Six E,
Ribeil JA,
Miccio A,
Bartolucci P,
Leboulch P,
Cavazzana M
Nat Med
2022 Jan;28(1):81-88.
Epub 2022 Jan 24
doi: 10.1038/s41591-021-01650-w.
PMID: 35075288
Tanhehco YC
Transfus Apher Sci
2021 Feb;60(1):103061.
Epub 2021 Jan 10
doi: 10.1016/j.transci.2021.103061.
PMID: 33461919
Zeng J,
Wu Y,
Ren C,
Bonanno J,
Shen AH,
Shea D,
Gehrke JM,
Clement K,
Luk K,
Yao Q,
Kim R,
Wolfe SA,
Manis JP,
Pinello L,
Joung JK,
Bauer DE
Nat Med
2020 Apr;26(4):535-541.
Epub 2020 Mar 16
doi: 10.1038/s41591-020-0790-y.
PMID: 32284612Free PMC Article
Piché J,
Van Vliet PP,
Pucéat M,
Andelfinger G
Cell Cycle
2019 Nov;18(21):2828-2848.
Epub 2019 Sep 13
doi: 10.1080/15384101.2019.1658476.
PMID: 31516082Free PMC Article
Thompson AA,
Walters MC,
Kwiatkowski J,
Rasko JEJ,
Ribeil JA,
Hongeng S,
Magrin E,
Schiller GJ,
Payen E,
Semeraro M,
Moshous D,
Lefrere F,
Puy H,
Bourget P,
Magnani A,
Caccavelli L,
Diana JS,
Suarez F,
Monpoux F,
Brousse V,
Poirot C,
Brouzes C,
Meritet JF,
Pondarré C,
Beuzard Y,
Chrétien S,
Lefebvre T,
Teachey DT,
Anurathapan U,
Ho PJ,
von Kalle C,
Kletzel M,
Vichinsky E,
Soni S,
Veres G,
Negre O,
Ross RW,
Davidson D,
Petrusich A,
Sandler L,
Asmal M,
Hermine O,
De Montalembert M,
Hacein-Bey-Abina S,
Blanche S,
Leboulch P,
Cavazzana M
N Engl J Med
2018 Apr 19;378(16):1479-1493.
doi: 10.1056/NEJMoa1705342.
PMID: 29669226