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

Effects of GBA1 Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers

GBA1变异和产前暴露对戈谢病携带者体内葡萄糖鞘氨醇(Lyso-Gb1)水平的影响

Szymańska-Rożek, Paulina; Lipiński, Patryk; Kleinotiene, Grazina; Dubiela, Paweł; Tylki-Szymańska, Anna

Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy

戈谢病患者接受酶替代疗法期间的长期和短期葡萄糖鞘氨醇(溶血磷脂酰胆碱-1)动态变化

Dubiela, Pawel; Szymanska-Rozek, Paulina; Hasinski, Piotr; Lipinski, Patryk; Kleinotiene, Grazina; Giersz, Dorota; Tylki-Szymanska, Anna

A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients-A Qualitative and Quantitative Approach

一项针对接受治疗的1型和3型戈谢病患者血浆几丁质酶活性的20年纵向研究——定性和定量方法

Szymańska-Rożek, Paulina; Czartoryska, Barbara; Kleinotiene, Grazina; Lipiński, Patryk; Tylki-Szymańska, Anna; Ługowska, Agnieszka

Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases

不要错过戈谢综合征的(基因)诊断:严重产前和围产期致死性散发病例的诊断线索和治疗的叙述性综述

Jezela-Stanek, Aleksandra; Kleinotiene, Grazina; Chwialkowska, Karolina; Tylki-Szymańska, Anna

Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease

未行脾切除术的1型戈谢病患者出现复发性肺曲霉病和分枝杆菌感染

Machaczka, Maciej; Lorenz, Fryderyk; Kleinotiene, Grazina; Bulanda, Agnieszka; Markuszewska-Kuczyńska, Alicja; Raistenskis, Juozas; Klimkowska, Monika