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

The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single-Centre Study

代谢检测在成人NORSE诊断评估中的作用:一项回顾性单中心研究

Kilmer, Jennifer; Ransley, George; Murphy, Elaine; Hanna, Michael G; Pitceathly, Robert D S; Rajakulendran, Sanjeev; Pizzamiglio, Chiara

Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis

通过产品替代治疗先天性代谢缺陷:以胆汁酸合成障碍为例

Clayton, Peter T; Hirachan, Rohit; Murphy, Elaine

Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS)

MPS IVA 成人患者接受 elosulfase alfa 酶替代疗法的长期疗效:Morquio A 注册研究 (MARS) 的亚组分析

Stepien, Karolina M; Burton, Barbara K; Bober, Michael B; Campeau, Philippe M; Ellaway, Carolyn; Bhattacharya, Kaustuv; Guffon, Nathalie; Hinds, David; Hunt, Abigail; Lail, Alice; Lin, Shuan-Pei; Magner, Martin; Murphy, Elaine; Reisewitz, Pascal; Mitchell, John J

Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK

英国成人X连锁低磷血症(XLH)患者使用布罗索单抗的真实世界疗效

Bubbear, Judith; Lachmann, Robin; Murphy, Elaine; Krishna, Gauri; Clunie, Gavin P R; Walsh, Jennifer; Schini, Marian; Salam, Syazrah; Roy, Matthew; Finezilber, Yael; Mathieson, Leigh; Hayes, Victoria; Johnson, Ben; Logan, Gillian; Stevens, Daniel; Davda, Rakesh; Nixon, Mark; Bowden, Annabel; Barham, Helen; Keen, Richard

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria

运动障碍的发生率随年龄增长而增加,这与精氨酸琥珀酸尿症中轻微且有限的神经影像学异常形成对比。

Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K; Baldwin, Tom; Alrashidi, Haya; Touramanidou, Loukia; Duff, Claire; Elkhateeb, Nour; Stepien, Karolina M; Sharma, Reena; Morris, Andrew; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Batzios, Spyros; Davison, James; Footitt, Emma; Tuschl, Karin; Lachmann, Robin; Murphy, Elaine; Santra, Saikat; Uudelepp, Mari-Liis; Yeo, Mildrid; Finn, Patrick F; Cavedon, Alex; Siddiqui, Summar; Rice, Lisa; Martini, Paolo G V; Frassetto, Andrea; Heales, Simon; Mills, Philippa B; Gissen, Paul; Clayden, Jonathan D; Clark, Christopher A; Eaton, Simon; Kalber, Tammy L; Baruteau, Julien

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

经典型半乳糖血症患者的脑功能:半乳糖血症网络(GalNet)成员综述

Panis, Bianca; Vos, E Naomi; Barić, Ivo; Bosch, Annet M; Brouwers, Martijn C G J; Burlina, Alberto; Cassiman, David; Coman, David J; Couce, María L; Das, Anibh M; Demirbas, Didem; Empain, Aurélie; Gautschi, Matthias; Grafakou, Olga; Grunewald, Stephanie; Kingma, Sandra D K; Knerr, Ina; Leão-Teles, Elisa; Möslinger, Dorothea; Murphy, Elaine; Õunap, Katrin; Pané, Adriana; Paci, Sabrina; Parini, Rossella; Rivera, Isabel A; Scholl-Bürgi, Sabine; Schwartz, Ida V D; Sdogou, Triantafyllia; Shakerdi, Loai A; Skouma, Anastasia; Stepien, Karolina M; Treacy, Eileen P; Waisbren, Susan; Berry, Gerard T; Rubio-Gozalbo, M Estela

Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium

SARS-CoV-2 大流行对中毒型代谢疾病患者健康的影响——来自 E-IMD 联盟的数据

Mütze, Ulrike; Gleich, Florian; Barić, Ivo; Baumgartner, Mathias; Burlina, Alberto; Chapman, Kimberly A; Chien, Yin-Hsiu; Cortès-Saladelafont, Elisenda; De Laet, Corinne; Dobbelaere, Dries; Eysken, Francois; Gautschi, Matthias; Santer, Rene; Häberle, Johannes; Joaquín, Clara; Karall, Daniela; Lindner, Martin; Lund, Allan M; Mühlhausen, Chris; Murphy, Elaine; Roland, Dominique; Ruiz Gomez, Angeles; Skouma, Anastasia; Grünert, Sarah C; Wagenmakers, Margreet; Garbade, Sven F; Kölker, Stefan; Boy, Nikolas

Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices

利用容积式采血装置研究静脉血浆和毛细血管血中苯丙氨酸含量的关系

Carling, Rachel S; Barclay, Zoe; Cantley, Nathan; Emmett, Erin C; Hogg, Sarah L; Finezilber, Yael; Schulenburg-Brand, Danja; Murphy, Elaine; Moat, Stuart J

A rare case of nephrotic syndrome and Tangier disease

一例罕见的肾病综合征合并唐吉尔病病例

Gama, Rouvick; Murphy, Elaine; Salisbury, Jon; Kassam, Shireen; Simmonds, Naomi; Roufosse, Candice; Elias, Robert

Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia

23例cblA型甲基丙二酸血症患者的长期预后

Marelli, Cecilia; Fouilhoux, Alain; Benoist, Jean-Francois; De Lonlay, Pascale; Guffon-Fouilhoux, Nathalie; Brassier, Anais; Cano, Aline; Chabrol, Brigitte; Pennisi, Alessandra; Schiff, Manuel; Acquaviva, Cecile; Murphy, Elaine; Servais, Aude; Lachmann, Robin