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

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C

2025年尼曼-匹克病C型共识临床管理指南

Hiwot, Tarekegn; Porter, Forbes D; Bremova-Ertl, Tatiana; Ramaswami, Uma; Hastings, Caroline; Héron, Bénédicte; Hopkin, Justin; Melville, Joella; Amartino, Hernan; Del Toro, Mireia; Deodato, Federica; Ezgü, Fatih; Gissen, Paul; Gibson, James B; Ficicioglu, Can; Giugliani, Roberto; Staretz-Chacham, Orna; Platt, Frances; Guffon, Nathalie; Julich, Kristina; Kresojević, Nikola; Lehman, Anna; Nadjar, Yann; Schneider, Susanne A; Jones, Simon; Mengel, Eugen; Tchan, Michel; Walterfang, Mark; Goker-Alpan, Ozlem; Dawson, Charlotte; Cowie, Sandra; Mathieson, Toni; Berry-Kravis, Elizabeth; Patterson, Marc C

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Diabetes Associated With Maternally Inherited Diabetes and Deafness (MIDD): From Pathogenic Variant to Phenotype

与母系遗传糖尿病和耳聋相关的糖尿病(MIDD):从致病变异到表型

Chanoine, Jean-Pierre; Thompson, David M; Lehman, Anna

Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia

系统评价:药物治疗对X连锁低磷血症成年患者重要结局的疗效

Ali, Dalal S; Mirza, Reza D; Alsarraf, Farah; Hussein, Salma; Abu Alrob, Hajar; Appelman-Dijkstra, Natasha M; Beck-Nielsen, Signe Sparre; Biosse-Duplan, Martin; Brandi, Maria Luisa; Carpenter, Thomas O; Chaussain, Catherine; Cohen-Solal, Martine; Crowley, Rachel K; Dandurand, Karel; Florenzano, Pablo; Fukumoto, Seiji; Gagnon, Claudia; Goodyer, Paul; Grasemann, Corinna; Imel, Erik A; Jan de Beur, Suzanne M; Lehman, Anna; Lewiecki, E Michael; Morgante, Emmett; Ward, Leanne M; Khan, Aliya A; Guyatt, Gordon

X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline

儿童X连锁低磷血症的管理:国际工作组临床实践指南

Ali, Dalal S; Carpenter, Thomas O; Imel, Erik A; Ward, Leanne M; Appelman-Dijkstra, Natasha M; Chaussain, Catherine; Jan de Beur, Suzanne M; Florenzano, Pablo; Abu Alrob, Hajar; Aldabagh, Rana; Alexander, R Todd; Alsarraf, Farah; Beck-Nielsen, Signe Sparre; Biosse-Duplan, Martin; Crowley, Rachel K; Dandurand, Karel; Filler, Guido; Friedlander, Lisa; Fukumoto, Seiji; Gagnon, Claudia; Goodyer, Paul; Grasemann, Corinna; Grimbly, Chelsey; Hussein, Salma; Javaid, Muhammad K; Khan, Sarah; Khan, Aneal; Lehman, Anna; Lems, Willem F; Lewiecki, E Michael; McDonnell, Ciara; Mirza, Reza D; Morgante, Emmett; Morrison, Archibald; Portale, Anthony A; Rao, Christina; Rhee, Yumie; Rush, Eric T; Siggelkow, Heide; Tetradis, Sotirios; Tosi, Laura; Guyatt, Gordon; Brandi, Maria Luisa; Khan, Aliya A

Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience

目前对患有X连锁低磷血症的儿童和成人进行监测的实践:一项全球专家经验调查

Ali, Dalal S; Alsarraf, Farah; Alrob, Hajar Abu; Alexander, R Todd; Almoulia, Abdulrahman; Appelman-Dijkstra, Natasha M; Beck-Nielsen, Signe Sparre; Biosse-Duplan, Martin; Brandi, Maria Luisa; Carpenter, Thomas O; Chaussain, Catherine; Cohen-Solal, Martine; Crowley, Rachel K; Dandurand, Karel; Florenzano, Pablo; Gagnon, Claudia; Goodyer, Paul; Grimbly, Chelsey; Hussein, Salma; Imel, Erik A; Jan de Beur, Suzanne M; Javaid, Muhammad K; Lehman, Anna; Lems, Willem F; Lewiecki, E Michael; McDonnell, Ciara; Mirza, Reza D; Morgante, Emmett; Portale, Anthony A; Rhee, Yumie; Siggelkow, Heide; Tosi, Laura L; Ward, Leanne M; Guyatt, Gordon; Khan, Aliya A

X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline

成人X连锁低磷血症的管理:国际工作组临床实践指南

Khan, Aliya A; Ali, Dalal S; Appelman-Dijkstra, Natasha M; Carpenter, Thomas O; Chaussain, Catherine; Imel, Erik A; Jan de Beur, Suzanne M; Florenzano, Pablo; Abu Alrob, Hajar; Aldabagh, Rana; Alexander, R Todd; Alsarraf, Farah; Beck-Nielsen, Signe Sparre; Biosse-Duplan, Martin; Cohen-Solal, Martine; Crowley, Rachel K; Dandurand, Karel; Filler, Guido; Friedlander, Lisa; Fukumoto, Seiji; Gagnon, Claudia; Goodyer, Paul; Grasemann, Corinna; Grimbly, Chelsey; Hussein, Salma; Javaid, Muhammad K; Khan, Sarah; Khan, Aneal; Lehman, Anna; Lems, Willem F; Lewiecki, E Michael; McDonnell, Ciara; Mirza, Reza D; Morgante, Emmett; Morrison, Archibald; Portale, Anthony A; Rhee, Yumie; Rush, Eric T; Siggelkow, Heide; Tetradis, Sotirios; Tosi, Laura; Ward, Leanne M; Guyatt, Gordon; Brandi, Maria Luisa

Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine

BBOX1基因的双等位基因变异会导致左旋肉碱缺乏和γ-丁基甜菜碱水平升高。

Li, Xiao; Yeganeh, Mehdi; Sinclair, Graham; Mwenifumbo, Jill; Jacob, Karen J; Arbour, Laura; Lehman, Anna; Rakic, Bojana; Vaz, Frédéric M; Horvath, Gabriella; Tarailo-Graovac, Maja; Stockler-Ipsiroglu, Sylvia

Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry

一项全球真实世界队列研究评估了米格司他治疗3.9年的肾脏和多系统疗效:来自followME Fabry Pathfinders注册研究的结果

Hughes, Derralynn A; Sunder-Plassmann, Gere; Jovanovic, Ana; Brand, Eva; West, Michael L; Bichet, Daniel G; Pisani, Antonio; Nowak, Albina; Torra, Roser; Khan, Aneal; Azevedo, Olga; Lehman, Anna; Linhart, Aleš; Rutecki, Jasmine; Giuliano, Joseph D; Krusinska, Eva; Nordbeck, Peter

Risk factors, stroke rates and aspirin prescribing trends in the Canadian Fabry disease initiative cohort

加拿大法布里病研究队列中的风险因素、卒中发生率和阿司匹林处方趋势

Théberge, Emilie T; Selvage, Caroline; Thomas, Anita; LeMoine, Kaye M; Robichaud, Rebecca; Zhou, Lily; Yeung, Darwin F; West, Michael L; Sirrs, Sandra; Lehman, Anna