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

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life

仅靠新生儿筛查无法预防大多数婴儿出生第一年内发生的严重维生素B12缺乏症。

Kaufman, Christina; Margreitter, Julian; Herle, Marion; Bonfig, Walter; Däster, Corinne; Heinrich, Bianka; Karall, Daniela; Kogler, Hubert; Konstantopoulou, Vassiliki; Laemmle, Alexander; Malär, Reta; Müller, Pascal; Pöll, Veronika; Poms, Martin; Righini-Grunder, Franziska; Saurenmann, Rotraud K; Sluka, Susanna; von der Weid, Nicolas; Zeyda, Maximilian; Baumgartner, Matthias R; Huemer, Martina

Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment

E-HOD登记库中的胱硫醚β-合成酶缺乏症——第二部分:饮食和药物治疗

Morris, Andrew A M; Sokolová, Jitka; Pavlíková, Markéta; Gleich, Florian; Kölker, Stefan; Dionisi-Vici, Carlo; Baumgartner, Matthias R; Hannibal, Luciana; Blom, Henk J; Huemer, Martina; Kožich, Viktor

The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear

通过新生儿筛查检测细胞内维生素B12活性降低的益处尚不明确

Knöpfli, Stella; Goeschl, Bernadette; Zeyda, Maximilian; Baghdasaryan, Anna; Baumgartner-Kaut, Margot; Baumgartner, Matthias R; Herle, Marion; Margreitter, Julian; Poms, Martin; Wortmann, Saskia B; Konstantopoulou, Vassiliki; Huemer, Martina

Lower Healthcare Access and Its Association With Individual Factors and Health-Related Quality of Life in Adults With Rare Diseases in Switzerland

瑞士罕见病成人患者医疗保健服务获取率低及其与个体因素和健康相关生活质量的关系

Wehrli, Susanne; Dwyer, Andrew A; Baumgartner, Matthias R; Lehmann, Carmen; Landolt, Markus A

Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data stream

瑞士儿科个性化研究网络(SwissPedHealth):一个联合的儿科国家数据流

Mozun, Rebeca; Belle, Fabiën N; Agostini, Andrea; Baumgartner, Matthias R; Fellay, Jacques; Forrest, Christopher B; Froese, D Sean; Giannoni, Eric; Goetze, Sandra; Hofmann, Kathrin; Latzin, Philipp; Lauener, Roger; Martin Necker, Aurélie; Ormond, Kelly; Pachlopnik Schmid, Jana; Pedrioli, Patrick G A; Posfay-Barbe, Klara M; Rauch, Anita; M Schulzke, Sven; Stocker, Martin; Spycher, Ben D; Vayena, Effy; Welzel, Tatjana; Zamboni, Nicola; Vogt, Julia E; Schlapbach, Luregn J; Bielicki, Julia A; Kuehni, Claudia E

Latent profiles and predictors of barriers to care in Swiss children and adolescents with rare diseases

瑞士罕见病儿童和青少年就医障碍的潜在特征和预测因素

Wehrli, Susanne; Baumgartner, Matthias R; Dwyer, Andrew A; Landolt, Markus A

Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression

肾移植合并甲基丙二酸血症患者发生非霍奇金淋巴瘤:代谢易感性和免疫抑制的作用

Burlina, Alberto B; Burlina, Alessandro P; Mignani, Renzo; Cazzorla, Chiara; Gueraldi, Daniela; Puma, Andrea; Loro, Christian; Baumgartner, Matthias R; Gragnaniello, Vincenza

Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I

非靶向血浆代谢组学分析揭示了I型糖原贮积症中广泛的代谢紊乱。

Mathis, Tamara; Poms, Martin; Köfeler, Harald; Gautschi, Matthias; Plecko, Barbara; Baumgartner, Matthias R; Hochuli, Michel

Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus

儿童和青少年中毒型先天性代谢缺陷的关键患者报告结局:一项基于德尔菲法的国际共识

Bösch, Florin; Zeltner, Nina A; Baumgartner, Matthias R; Huemer, Martina; Landolt, Markus A

Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism

照护者的负担以及父母对疾病严重程度的认知决定了中毒型先天性代谢缺陷患儿的健康相关生活质量。

Bösch, Florin; Landolt, Markus A; Baumgartner, Matthias R; Fernandez, Susana; Forny, Patrick; Gautschi, Matthias; Grünert, Sarah C; Häberle, Johannes; Horvath, Carolina; Karall, Daniela; Lampis, Danila; Rohrbach, Marianne; Scholl-Bürgi, Sabine; Szinnai, Gabor; Huemer, Martina