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

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study

基因检测在基因靶向试验时代的重要性:罗斯托克帕金森病研究

Westenberger, Ana; Skrahina, Volha; Usnich, Tatiana; Beetz, Christian; Vollstedt, Eva-Juliane; Laabs, Björn-Hergen; Paul, Jefri J; Curado, Filipa; Skobalj, Snezana; Gaber, Hanaa; Olmedillas, Maria; Bogdanovic, Xenia; Ameziane, Najim; Schell, Nathalie; Aasly, Jan Olav; Afshari, Mitra; Agarwal, Pinky; Aldred, Jason; Alonso-Frech, Fernando; Anderson, Roderick; Araújo, Rui; Arkadir, David; Avenali, Micol; Balal, Mehmet; Benizri, Sandra; Bette, Sagari; Bhatia, Perminder; Bonello, Michael; Braga-Neto, Pedro; Brauneis, Sarah; Cardoso, Francisco Eduardo Costa; Cavallieri, Francesco; Classen, Joseph; Cohen, Lisa; Coletta, Della; Crosiers, David; Cullufi, Paskal; Dashtipour, Khashayar; Demirkiran, Meltem; de Carvalho Aguiar, Patricia; De Rosa, Anna; Djaldetti, Ruth; Dogu, Okan; Dos Santos Ghilardi, Maria Gabriela; Eggers, Carsten; Elibol, Bulent; Ellenbogen, Aaron; Ertan, Sibel; Fabiani, Giorgio; Falkenburger, Björn H; Farrow, Simon; Fay-Karmon, Tsviya; Ferencz, Gerald J; Fonoff, Erich Talamoni; Fragoso, Yara Dadalti; Genç, Gençer; Gorospe, Arantza; Grandas, Francisco; Gruber, Doreen; Gudesblatt, Mark; Gurevich, Tanya; Hagenah, Johann; Hanagasi, Hasmet A; Hassin-Baer, Sharon; Hauser, Robert A; Hernández-Vara, Jorge; Herting, Birgit; Hinson, Vanessa K; Hogg, Elliot; Hu, Michele T; Hummelgen, Eduardo; Hussey, Kelly; Infante, Jon; Isaacson, Stuart H; Jauma, Serge; Koleva-Alazeh, Natalia; Kuhlenbäumer, Gregor; Kühn, Andrea; Litvan, Irene; López-Manzanares, Lydia; Luxmore, McKenzie; Manandhar, Sujeena; Marcaud, Veronique; Markopoulou, Katerina; Marras, Connie; McKenzie, Mark; Matarazzo, Michele; Merello, Marcelo; Mollenhauer, Brit; Morgan, John C; Mullin, Stephen; Musacchio, Thomas; Myers, Bennett; Negrotti, Anna; Nieves, Anette; Nitsan, Zeev; Oskooilar, Nader; Öztop-Çakmak, Özgür; Pal, Gian; Pavese, Nicola; Percesepe, Antonio; Piccoli, Tommaso; Pinto de Souza, Carolina; Prell, Tino; Pulera, Mark; Raw, Jason; Reetz, Kathrin; Reiner, Johnathan; Rosenberg, David; Ruiz-Lopez, Marta; Ruiz Martinez, Javier; Sammler, Esther; Santos-Lobato, Bruno Lopes; Saunders-Pullman, Rachel; Schlesinger, Ilana; Schofield, Christine M; Schumacher-Schuh, Artur F; Scott, Burton; Sesar, Ángel; Shafer, Stuart J; Sheridan, Ray; Silverdale, Monty; Sophia, Rani; Spitz, Mariana; Stathis, Pantelis; Stocchi, Fabrizio; Tagliati, Michele; Tai, Yen F; Terwecoren, Annelies; Thonke, Sven; Tönges, Lars; Toschi, Giulia; Tumas, Vitor; Urban, Peter Paul; Vacca, Laura; Vandenberghe, Wim; Valente, Enza Maria; Valzania, Franco; Vela-Desojo, Lydia; Weill, Caroline; Weise, David; Wojcieszek, Joanne; Wolz, Martin; Yahalom, Gilad; Yalcin-Cakmakli, Gul; Zittel, Simone; Zlotnik, Yair; Kandaswamy, Krishna K; Balck, Alexander; Hanssen, Henrike; Borsche, Max; Lange, Lara M; Csoti, Ilona; Lohmann, Katja; Kasten, Meike; Brüggemann, Norbert; Rolfs, Arndt; Klein, Christine; Bauer, Peter

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

Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD

先天性肝纤维化是常染色体显性多囊肾病 (ADPKD) 的早期征兆

Sila, L; Velmishi, V; Saraci, B; Dervishi, E; Sila, S; Shtiza, D; Cullufi, P

A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS

第一例阿尔巴尼亚 Diets-Jongmans 综合征病例中 KDM3B 基因的新的从头致病性变异:DIJOS

Tabaku, Mirela; Tomori, Sonila; Cullufi, Paskal; Dervishi, Ermira; Paknia, Omid; Bauer, Peter

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

Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family

全面的临床、生化和基因筛查揭示了四种不同的GBA基因型,它们是同一家族中戈谢病不同临床表现的潜在原因。

Cullufi, P; Tabaku, M; Beetz, C; Tomori, S; Velmishi, V; Gjikopulli, A; Bauer, P; Wirth, S; Rolfs, A

Constipation as an Atypical Sign of ARC Syndrome - Case Report

便秘作为ARC综合征的非典型症状——病例报告

Velmishi, V; Dervishi, E; Bali, D; Shehu, A; Cullufi, P