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

New cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

δ-氨基乙酰丙酸脱水酶缺乏症新病例:利用创新的小鼠肝脏模型深入了解基因变异的功能

Di Pierro, Elena; Solares, Isabel; Jericó, Daniel; Castelbón, Francisco J; Solera, Javier Tomás; Riera-Mestre, Antoni; Barreda-Sánchez, María; Poci, Carlo; Nicolli, Annamaria; Urigo, Francesco; Sampedro, Ana; de Salamanca, Rafael Enríquez; Marcacci, Matteo; Ávila, Matías A; Harper, Pauline; Fanlo-Maresma, Marta G; Guillén-Navarro, Encarna; Graziadei, Giovanna; Wenzel, Andrea; Beck, Bodo B; Ventura, Paolo; Morales-Conejo, Montserrat; Fontanellas, Antonio

Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review

短暂性新生儿糖尿病作为HNF1B相关疾病的早期诊断线索——两例病例报告及文献综述

Kołbuc, Marcin; Bednarek, Paweł; Motyka, Rafał; Jarmoliński, Tomasz; Michalak-Kloc, Marzena; Beck, Bodo B; Urbańska-Kosińska, Małgorzata; Zaniew, Marcin

Effective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria

有效的1型和3型原发性高草酸尿症新生儿筛查

Hoppe, Bernd; Martin-Higueras, Cristina; Borghese, Lodovica; Kaspar, Sophie; Reusch, Björn; Beck, Bodo B; Walli, Adam; Janzen, Ella; Hegert, Sebastian; Janzen, Nils; Hohenfellner, Katharina

Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives

常染色体显性遗传性肾脏低镁血症中的新型RRAGD变异及其治疗前景

Adella, Anastasia; Jouret, François; Madariaga, Leire; Leermakers, Pieter A; Arango, Pedro; Ariceta, Gema; Beck, Bodo B; Bjerre, Anna; Bockenhauer, Detlef; Coccia, Paula; Dhamija, Radhika; de Frutos, Fernando; Garcia-Castano, Alejandro; van Katwijk, Sara B; Lucas, Jesus; Möller, Thomas; Müller, Dominik; Pinto E Vairo, Filippo; Raki, Melinda; Rips, Jonathan; Schlingmann, Karl Peter; Venselaar, Hanka; Machado Bressan Wilke, Matheus Vernet; Nijenhuis, Tom; Hoenderop, Joost; de Baaij, Jeroen

C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female

女性 C1GALT1C1 相关糖基化马赛克障碍

Rajindra P Aryal, Aditya Ramanujan, Camille Bucci, Christian Neckelmann, Jamie Heimburg-Molinaro, Sandra F Cummings, Florian Erger, Bodo B Beck, Laurie H Seaver, Richard D Cummings

Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene

在携带纯合POC1B p.Arg106Pro变异的家族中,严重的Joubert综合征是由邻近CEP290基因中共同遗传的深内含子突变引起的。

Betz, Christian; Reusch, Björn; Langmann, Thomas; Habbig, Sandra; Beck, Bodo B; Bolz, Hanno J

Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1

Lumasiran治疗原发性高草酸尿症1型患者的多中心长期真实世界数据

Martin-Higueras, Cristina; Borghese, Lodovica; Torres, Armando; Fraga-Bilbao, Fátima; Santana-Estupiñán, Raquel; Stefanidis, Constantinos J; Tory, Kálmán; Walli, Adam; Gondra, Leire; Kempf, Caroline; Gessner, Michaela; Habbig, Sandra; Eifler, Lisa; Schmitt, Claus P; Rüdel, Benjamin; Bartram, Malte P; Beck, Bodo B; Hoppe, Bernd

Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition

产后出血相关血栓性微血管病的特征及短期补体抑制的作用

Kaufeld, Jessica K; Kühne, Lucas; Schönermarck, Ulf; Bräsen, Jan Hinrich; von Kaisenberg, Constantin; Beck, Bodo B; Erger, Florian; Bergmann, Carsten; von Bergwelt-Baildon, A N K E; Brinkkötter, Paul T; Völker, Linus A; Menne, Jan

Challenges and Considerations in Managing Thrombotic Microangiopathy and Disseminated Intravascular Coagulation in Postpartum Hemorrhage

产后出血合并血栓性微血管病和弥散性血管内凝血的治疗挑战与注意事项

Kaufeld, Jessica K; Schönermarck, Ulf; Kühne, Lucas; Bräsen, Jan Hinrich; von Kaisenberg, Constantin; Beck, Bodo B; Erger, Florian; Bergmann, Carsten; von Bergwelt-Baildon, Anke; Brinkkötter, Paul T; Menne, Jan; Völker, Linus A

Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1

原发性高草酸尿症1型的家族内疾病异质性

Deesker, Lisa J; Karacoban, Hazal A; Metry, Elisabeth L; Garrelfs, Sander F; Bacchetta, Justine; Boyer, Olivia; Collard, Laure; Devresse, Arnaud; Hayes, Wesley; Hulton, Sally-Anne; Martin-Higueras, Cristina; Moochhala, Shabbir H; Neuhaus, Thomas J; Oh, Jun; Prikhodina, Larisa; Sikora, Przemyslaw; Oosterveld, Michiel J S; Groothoff, Jaap W; Mandrile, Giorgia; Beck, Bodo B