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

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype

2-3型戈谢病的表型谱:巴尔干基因型的案例研究

Cullufi, Paskal; Velmishi, Virtut; Dervishi, Ermira; Tomori, Sonila; Hoxha, Gladiola; Jazexhiu-Postoli, Eda; Basha, Entela; Tako, Aferdita Kumaraku; Tabaku, Mirela

Ten-Year Follow-Up of Taliglucerase Alfa in Type 1 Gaucher Disease: Real-World Evidence from Albania

阿尔巴尼亚1型戈谢病患者接受Taliglucerase Alfa治疗的十年随访:来自真实世界的证据

Cullufi, Paskal; Velmishi, Virtut; Troja, Erjon; Tomori, Sonila; Dervishi, Ermira; Hoxha, Gladiola; Tanka, Marjeta; Pulluqi, Polikron; Perolla, Adela; Basha, Entela; Ivanaj, Arben; Jazexhiu, Eda; Tabaku, Mirela

Medium-Chain Acyl-CoA Dehydrogenase Deficiency Disorder as a Cause of Acute Liver Failure in a 23-Month-Old Baby

中链酰基辅酶A脱氢酶缺乏症是23个月大婴儿急性肝衰竭的原因之一

Gjeta, Inva; Bakalli, Ilirjana; Sala, Durim; Celaj, Ermela; Biqiku, Marsela; Hoxha, Vladimir; Velmishi, Virtut; Kola, Elmira

Delayed Diagnosis of Congenital Duodenal Stenosis in a 16-Year-Old Girl

一名16岁女孩先天性十二指肠狭窄的诊断延迟

Velmishi, Virtut; Alushani, Dritan; Dervishi, Ermira; Heta, Saimir; Sila, Spiro; Cullufi, Paskal

A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis - case report

一名患有癫痫和横纹肌溶解症的14岁男孩的醛缩酶A缺乏症新表型——病例报告

Santoro, Lucia; Pjetraj, Dorina; Velmishi, Virtut; Campana, Carmen; Catassi, Carlo; Dionisi-Vici, Carlo; Maiorana, Arianna

Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

通过定量分析干血斑中溶酶体-Gb1的浓度,可以可靠地监测戈谢病患者的治疗效果。

Cozma, Claudia; Cullufi, Paskal; Kramp, Guido; Hovakimyan, Marina; Velmishi, Virtut; Gjikopulli, Agim; Tomori, Sonila; Fischer, Steffen; Oppermann, Sebastian; Grittner, Ulrike; Bauer, Peter; Beetz, Christian; Rolfs, Arndt

Destination Imagery Diagnosis Model: The Case of Switzerland

目的地意象诊断模型:以瑞士为例

Cullufi, Paskal; Tabaku, Mirela; Velmishi, Virtut; Gjikopulli, Agim; Tomori, Sonila; Dervishi, Ermira; Tako, Aferdita; Leubauer, Anika; Westenberger, Ana; Cozma, Claudia; Beetz, Christian; Bauer, Peter; Wirth, Stefan; Rolfs, Arndt; Chen, Meng-Mei; Zizka, Laura; Zhang, Effie Ruiheng; Gentinetta, Justine

Variability of anti-human transglutaminase testing in celiac disease across Mediterranean countries

地中海国家乳糜泻抗人转谷氨酰胺酶检测的差异

Smarrazzo, Andrea; Magazzù, Giuseppe; Ben-Hariz, Mongi; Legarda Tamara, Maria; Velmishi, Virtut; Roma, Elefhteria; Kansu, Aydan; Mičetić-Turk, Dušanka; Bravi, Enzo; Stellato, Pio; Arcidiaco, Carmela; Greco, Luigi

Diagnosis of celiac disease and applicability of ESPGHAN guidelines in Mediterranean countries: a real life prospective study

地中海国家乳糜泻的诊断及ESPGHAN指南的适用性:一项真实世界的前瞻性研究

Smarrazzo, Andrea; Misak, Zrinjka; Costa, Stefano; Mičetić-Turk, Dušanka; Abu-Zekry, Mona; Kansu, Aydan; Abkari, Abdelhak; Bouziane-Nedjadi, Karim; Ben Hariz, Mongi; Roma, Eleftheria; Velmishi, Virtut; Legarda Tamara, Maria; Attard, Thomas; Djurisic, Veselinka; Greco, Luigi; Magazzù, Giuseppe

Celiac disease in the Mediterranean area

地中海地区的乳糜泻

Tucci, Francesca; Astarita, Luca; Abkari, Abdelhak; Abu-Zekry, Mona; Attard, Thomas; Ben Hariz, Mongi; Bilbao, José Ramon; Boudraa, Ghazalia; Boukthir, Samir; Costa, Stefano; Djurisic, Veselinka; Hugot, Jean-Pierre; Irastorza, Iñaki; Kansu, Aydan; Kolaček, Sanja; Magazzù, Giuseppe; Mičetić-Turk, Dušanka; Misak, Zrinjka; Roma, Eleftheria; Rossi, Pasqualino; Terzic, Selma; Velmishi, Virtut; Arcidiaco, Carmela; Auricchio, Renata; Greco, Luigi