日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency: an EBMT-IEWP retrospective study

造血干细胞移植治疗嘌呤核苷磷酸化酶缺乏症:一项EBMT-IEWP回顾性研究

Herrmann, Uli S; Felber, Matthias; Worth, Austen; Haskologlu, Sule; Dogu, Figen; Lewis, Victor A; Strahm, Brigitte; Groll, Andreas; Gennery, Andrew R; Hauck, Fabian; Wynn, Robert; Coussons, Mary; Meyts, Isabelle; Lindemans, Caroline; Bordon, Victoria; Bredius, Robbert G M; Kühl, Jörn-Sven; Völler, Mirjam; Zirngibl, Felix; Zaidman, Irina; Laberko, Alexandra; Zeilhofer, Ulrike; Hauri-Hohl, Mathias; Lankester, Arjan; Ikinciogullari, Aydan; Guilcher, Gregory M T; Hackenberg, Annette; Yeşilipek, Akif; Davies, Graham; Rao, Kanchan; Hershfield, Michael Steven; Parikh, Suhag H; Gilbert, Patrick; Bettoni da Cunha Riehm, Claudia; Albert, Michael H; Schulz, Ansgar S; Hönig, Manfred; Neven, Bénédicte; Güngör, Tayfun

Correction to: An international survey of allogeneic hematopoietic cell transplantation for X-linked agammaglobulinemia

更正:一项关于X连锁无丙种球蛋白血症异基因造血干细胞移植的国际调查

Nishimura, Akira; Uppuluri, Ramya; Raj, Revathi; Swaminathan, Venkateswaran Vellaichamy; Cheng, Yifei; Abu-Arja, Rolla F; Fu, Bin; Laberko, Alexandra; Albert, Michael H; Hauck, Fabian; Bucciol, Giorgia; Bigley, Venetia; Elcombe, Suzanne; Kharya, Gaurav; Pronk, Cornelis Jan H; Wehr, Claudia; Neven, Bénédicte; Warnatz, Klaus; Meyts, Isabelle; Morio, Tomohiro; Gennery, Andrew R; Kanegane, Hirokazu

International clinical consensus on leukocyte adhesion deficiency-I: Modified Delphi analysis

关于白细胞黏附缺陷的国际临床共识-I:改良德尔菲分析

Heimall, Jennifer; González-Granado, Luis Ignacio; Booth, Claire; Ip, Winnie; Kuo, Caroline Y; Bakhtiar, Shahrzad; Ikincioğullari, Aydan; Ferrua, Francesca; Chitty-Lopez, Maria; Bailey, Miranda; Carter, Patrice; Matthews, Emily; Lee, Jennifer; Prockop, Susan; Gennery, Andrew R; Leiding, Jennifer W

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

对人类 RAG 缺陷的多组学分析揭示了独特的免疫失调模式,但具有共同的炎症特征。

Bosticardo Marita, Dobbs Kerry, Delmonte Ottavia M, Martins Andrew J, Pala Francesca, Kawai Tomoki, Kenney Heather, Magro Gloria, Rosen Lindsey B, Yamazaki Yasuhiro, Yu Hsin-Hui, Calzoni Enrica, Lee Yu Nee, Liu Can, Stoddard Jennifer, Niemela Julie, Fink Danielle, Castagnoli Riccardo, Ramba Meredith, Cheng Aristine, Riley Deanna, Oikonomou Vasileios, Shaw Elana, Belaid Brahim, Keles Sevgi, Al-Herz Waleed, Cancrini Caterina, Cifaldi Cristina, Baris Safa, Sharapova Svetlana, Schuetz Catharina, Gennery Andrew R, Freeman Alexandra F, Somech Raz, Choo Sharon, Giliani Silvia C, Güngör Tayfun, Drozdov Daniel, Meyts Isabelle, Moshous Despina, Neven Benedicte, Abraham Roshini S, El-Marsafy Aisha, Kanariou Maria, King Alejandra, Licciardi Francesco, Cruz-Muñoz Mario E, Palma Paolo, Poli Cecilia, Adeli Mehdi, Algeri Mattia, Alroqi Fayhan J, Bastard Paul, Bergerson Jenna R E, Booth Claire, Brett Ana, Burns Siobhan O, Butte Manish J, Padem Nurcicek, de la Morena M, Dbaibo Ghassan, de Ravin Suk See, Dimitrova Dimana, Djidjik Reda, Dorna Mayra B, Dutmer Cullen M, Elfeky Reem, Facchetti Fabio, Fuleihan Ramsay L, Geha Raif S, Gonzalez-Granado Luis I, Haljasmägi Liis, Ale Hanadys, Hayward Anthony, Hifanova Anna M, Ip Winnie, Kaplan Blanka, Kapoor Neena, Karakoc-Aydiner Elif, Kärner Jaanika, Keller Michael D, Dávila Saldaña Blachy J, Kiykim Ayça, Kuijpers Taco W, Kuznetsova Elena E, Latysheva Elena A, Leiding Jennifer W, Locatelli Franco, Alva-Lozada Guisela, McCusker Christine, Celmeli Fatih, Morsheimer Megan, Ozen Ahmet, Parvaneh Nima, Pasic Srdjan, Plebani Alessandro, Preece Kahn, Prockop Susan, Sakovich Inga S, Starkova Elena E, Torgerson Troy, Verbsky James, Walter Jolan E, Ward Brant, Wisner Elizabeth L, Draper Deborah, Myint-Hpu Katherine, Truong Pooi M, Lionakis Michail S, Similuk Morgan B, Walkiewicz Magdalena A, Klion Amy, Holland Steven M, Oguz Cihan, Bogunovic Dusan, Kisand Kai, Su Helen C, Tsang John S, Kuhns Douglas, Villa Anna, Rosenzweig Sergio D, Pittaluga Stefania, Notarangelo Luigi D

Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency

5例常染色体隐性RIPK1缺陷患者造血干细胞移植的结果

Walsh, Rebecca B; McNaughton, Peter; Nademi, Zohreh; Laberko, Alexandra; Balashov, Dmitry; Al-Mousa, Hamoud; Arkwright, Peter D; Wynn, Robert F; Flood, Terry; Williams, Eleri; Cant, Andrew; Abinun, Mario; Hambleton, Sophie; Slatter, Mary; Gennery, Andrew R; Lum, Su Han; Owens, Stephen

Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis

无丙种球蛋白血症患者的自我报告临床结果和生活质量:早期诊断的重要性

Blom, Maartje; Duintjer, Annelotte J; Jamee, Mahnaz; de Gier, Melanie; Bloomfield, Markéta; Klocperk, Adam; Kralickova, Pavlina; Karaca, Neslihan E; Boyarchuk, Oksana; Čižnár, Peter; Jeseňák, Miloš; Sharapova, Svetlana; Skopovets, Ekaterina; Gonzalez-Granado, Luis I; Palmeri, Serena; Volpi, Stefano; Nalda, Andrea Martin; Tello, Sonia Rodriguez; Soler-Palacín, Pere; Abolhassani, Hassan; Pulvirenti, Federica; Cinicola, Bianca; Wintergerst, Uwe; de Bree, Godelieve J; van den Berg, J Merlijn; Leavis, Helen L; Vermont, Clementien; Dalm, Virgil A S H; van Aerde, Koen; Henriet, Stefanie; Jolink, Hetty; Potjewijd, Judith; Lankester, Arjan; Mukherjee, Chandoshi Rhea; Berghuis, Dagmar; Pac, Małgorzata; Shillitoe, Benjamin M J; Gennery, Andrew R; van der Burg, Mirjam

Correction to: Self-reported Clinical Outcomes and Quality of Life in Agammaglobulinemia: the Importance of an Early Diagnosis

更正:无丙种球蛋白血症患者的自我报告临床结果和生活质量:早期诊断的重要性

Blom, Maartje; Duintjer, Annelotte J; Jamee, Mahnaz; de Gier, Melanie; Bloomfield, Markéta; Klocperk, Adam; Kralickova, Pavlina; Karaca, Neslihan E; Boyarchuk, Oksana; Čižnár, Peter; Jeseňák, Miloš; Sharapova, Svetlana; Skopovets, Ekaterina; Gonzalez-Granado, Luis I; Palmeri, Serena; Volpi, Stefano; Nalda, Andrea Martin; Tello, Sonia Rodriguez; Soler-Palacín, Pere; Abolhassani, Hassan; Pulvirenti, Federica; Cinicola, Bianca; Wintergerst, Uwe; de Bree, Godelieve J; van den Berg, J Merlijn; Leavis, Helen L; Vermont, Clementien; Dalm, Virgil A S H; van Aerde, Koen; Henriet, Stefanie; Jolink, Hetty; Potjewijd, Judith; Lankester, Arjan; Mukherjee, Chandoshi Rhea; Berghuis, Dagmar; Pac, Małgorzata; Shillitoe, Benjamin M J; Gennery, Andrew R; van der Burg, Mirjam

POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments

POLD3单倍体功能不全与非综合征性感觉神经性成人起病进行性听力和平衡障碍有关。

Chouery, Eliane; Mehawej, Cybel; Saade, Rami; Barake, Rana; Zarecki, Patryk; Gennery, Catherine; Corbani, Sandra; Korban, Rima; Hamam, Ali; Nasser Eldin, Jade; Yamout, Mohamad; Banna, Mazen; Yamout, Abdul Kader Afif; Adhami, Fawaz; Megarbane, Andre; Mustapha, Mirna

Gut microbiome in paediatric short bowel syndrome: a systematic review and sequencing re-analysis

儿童短肠综合征肠道微生物组:系统评价和测序再分析

Cleminson, Jemma S; Young, Gregory R; Campbell, David I; Campbell, Fiona; Gennery, Andrew R; Berrington, Janet E; Stewart, Christopher J

Allogeneic hematopoietic cell transplantation for autoinflammatory disorders

异基因造血干细胞移植治疗自身炎症性疾病

Kanegane, Hirokazu; Miyamoto, Satoshi; Kamiya, Takahiro; Ohnishi, Hidenori; Nishikomori, Ryuta; Gennery, Andrew R; Mori, Takehiko