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

The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria

数字工具及其在罕见脑部疾病患者诊疗路径中的应用:以苯丙酮尿症为例

Cannizzo, Sara; Quoidbach, Vinciane; Sheehan-Gilroy, Bernadette; Hagedorn, Tobias; Bak, Agata; Dickson, Suzanne L; Treacy, Eileen P; Hermida, Alvaro; MacDonald, Anita; Venegas, Eva; O'Byrne, James; Scarpa, Maurizio; Van Spronsen, Francjan; Lange, Eric; Buckinx, Tim; Monavari, Ahmad; Dahl, Stephan Vom; Trieste, Leopoldo; Turchetti, Giuseppe

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

Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations

妊娠期有机酸尿症:代谢方面的考量概述

Shakerdi, Loai A; Gillman, Barbara; Corcoran, Emma; McNulty, Jenny; Treacy, Eileen P

The hypergonadotropic hypogonadism conundrum of classic galactosemia

经典型半乳糖血症的高促性腺激素性性腺功能减退症之谜

Derks, Britt; Rivera-Cruz, Greysha; Hagen-Lillevik, Synneva; Vos, E Naomi; Demirbas, Didem; Lai, Kent; Treacy, Eileen P; Levy, Harvey L; Wilkins-Haug, Louise E; Rubio-Gozalbo, M Estela; Berry, Gerard T

An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature

对爱尔兰罕见病儿童累积患病率的估计及相关文献评述

Gunne, Emer; Lambert, Deborah M; Ward, Alana J; Murphy, Daniel N; Treacy, Eileen P; Lynch, Sally Ann

Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency

长链3-羟酰辅酶A脱氢酶缺乏症患者的妊娠管理

Shakerdi, Loai A; McNulty, Jenny; Gillman, Barbara; McCarthy, Claire M; Ivory, Jessica; Sheerin, Alison; O'Byrne, James J; Donnelly, Jennifer C; Treacy, Eileen P

Galactokinase deficiency: lessons from the GalNet registry

半乳糖激酶缺乏症:来自 GalNet 注册研究的启示

Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; Wortmann, Saskia B; Treacy, Eileen P; Timson, David J; Berry, Gerard T

Impact of trimethylaminuria on daily psychosocial functioning

三甲胺尿症对日常心理社会功能的影响

Roddy, Daniel; McCarthy, Philomena; Nerney, Darragh; Mulligan-Rabbitt, Jennifer; Smith, Edwin; Treacy, Eileen P

Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake

成人经典型半乳糖血症患者IgG的N-糖基化、岩藻糖基化、半乳糖基化和唾液酸化异常,膳食半乳糖摄入量的影响

Treacy, Eileen P; Vencken, Sebastian; Bosch, Annet M; Gautschi, Matthias; Rubio-Gozalbo, Estela; Dawson, Charlotte; Nerney, Darragh; Colhoun, Hugh Owen; Shakerdi, Loai; Pastores, Gregory M; O'Flaherty, Roisin; Saldova, Radka

Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers

经典型半乳糖血症的深度表型分析:临床结果和生化标志物

Welsink-Karssies, Mendy M; Ferdinandusse, Sacha; Geurtsen, Gert J; Hollak, Carla E M; Huidekoper, Hidde H; Janssen, Mirian C H; Langendonk, Janneke G; van der Lee, Johanna H; O'Flaherty, Roisin; Oostrom, Kim J; Roosendaal, Stefan D; Rubio-Gozalbo, M Estela; Saldova, Radka; Treacy, Eileen P; Vaz, Fred M; de Vries, Maaike C; Engelen, Marc; Bosch, Annet M