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

Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients

NBAS相关疾病的肝脏表型:230例患者的临床病程、预后因素和结局

Peters, Bianca; Schlieben, Lea Dewi; Brennenstuhl, Heiko; Arikan, Cigdem; Bedoyan, Sarah M; Bulut, Fatma Derya; Crushell, Ellen; Dionisi-Vici, Carlo; Drab, Ada; Fichtner, Alexander; Garcia, Aixa Gonzalez; Fry, Deanna; Garbade, Sven F; Hammann, Nicole; Hadzic, Nedim; Hegarty, Robert; Jørgensen, Marianne Hørby; Laaß, Martin; Lainka, Elke; Leghlam, Lina; Lurz, Eberhard; Mungan, Halise Neslihan Önenli; Pietrobattista, Andrea; Polo, Begona; Socha, Piotr; Squires, James E; Sun, Tian; Vogel, Georg F; Prokisch, Holger; Kölker, Stefan; Hoffmann, Georg F; Staufner, Christian; Lenz, Dominic

Glycerol intoxication syndrome in young children, following the consumption of slush ice drinks

幼儿食用冰沙饮料后发生甘油中毒综合征

Brothwell, Shona Lc; Fitzsimons, Patricia E; Gerrard, Adam; Schwahn, Bernd C; Stockdale, Christopher; Bowron, Ann; Anderson, Mark; Hart, Claire E; Hannah, Romanie; Ritchie, Francesca; Deshpande, Sanjeev A; Sreekantam, Srividya; Watts, Gemma; Yap, Sufin; Mundy, Helen; Veiraiah, Aravindan; Collins, Abigail; Cozens, Alison; Morris, Andrew A; Crushell, Ellen

The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland

爱尔兰共和国四氢生物蝶呤代谢紊乱的代谢概况

Fisher, A; Boruah, R; Mayne, P D; Monavari, A A; Crushell, E; Knerr, I

Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland

爱尔兰共和国新生儿血斑筛查经典型半乳糖血症50年后的临床和发育结果

Pereira, D; Loftus, E; Thompson, C E; Boyle, F; McNulty, J; Boruah, R; Crushell, E; Howard, C; Hughes, J; Monavari, A A; Treacy, E P; Beegan, A; Jordan, N; Rogers, Y; Collins, A; Brady, J J; Elsammak, M; Mayne, P D; Knerr, I

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series

儿童亚甲基四氢叶酸还原酶 (MTHFR) 缺乏症表型谱的扩展:病例系列研究

Loftus, Eimear; Elbishari, Zaineb; Fitzsimons, Patricia; Howard, Caoimhe; Sheikh, Yusra; Lynch, Bryan; Crushell, Ellen; Knerr, Ina

Genetic landscape of pediatric acute liver failure of indeterminate origin

儿童不明原因急性肝衰竭的遗传图谱

Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier L; Crushell, Ellen; Dalgiç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaçlioğlu, Ceyda T; Knoppke, Birgit; Kohl, Martina; Kölbel, Heike; Kölker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloğlu, Zarife; Kuster, Alice; Laass, Martin W; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Müller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petković Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnès; Santer, René; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B; Zakharova, Ekaterina; Hoffmann, Georg F; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger

Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities

遗传性代谢疾病的临床和生化特征。十六、血液学异常

Dunlea, Eoghan; Crushell, Ellen; Cotter, Melanie; Blau, Nenad; Ferreira, Carlos R

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

C型尼曼匹克病患者的临床疾病特征:来自国际尼曼匹克病登记处(INPDR)的发现

Bolton, Shaun C; Soran, Vina; Marfa, Mercedes Pineda; Imrie, Jackie; Gissen, Paul; Jahnova, Helena; Sharma, Reena; Jones, Simon; Santra, Saikat; Crushell, Ellen; Stampfer, Miriam; Coll, Maria Jose; Dawson, Charlotte; Mathieson, Toni; Green, James; Dardis, Andrea; Bembi, Bruno; Patterson, Marc C; Vanier, Marie T; Geberhiwot, Tarekegn

Emergency department utilisation by homeless children in Dublin, Ireland: a retrospective review

爱尔兰都柏林无家可归儿童急诊就诊情况回顾性研究

O' Brien, Niamh; Quinn, Nuala; Joyce, Birgitta; Bedford, Helen; Crushell, Ellen

Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients

戊二酸尿症1型:一项纳入34名爱尔兰患者的大型队列研究的诊断、临床特征和长期预后

Healy, Lydia; O'Shea, Meabh; McNulty, Jennifer; King, Graham; Twomey, Eilish; Treacy, Eileen; Crushell, Ellen; Hughes, Joanne; Knerr, Ina; Monavari, Ahmad Ardeshir