Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots
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
Published in International journal of molecular sciences (27.06.2020)
Published in International journal of molecular sciences (27.06.2020)
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Journal Article
Taliglucerase alfa in the longterm treatment of children and adolescents with type 1 Gaucher disease: the Albanian experience
Cullufi, Paskal, Tomori, Sonila, Velmishi, Virtut, Gjikopulli, Agim, Akshija, Ilir, Tako, Aferdita, Dervishi, Ermira, Hoxha, Gladiola, Tanka, Marjeta, Troja, Erjon, Tabaku, Mirela
Published in Frontiers in pediatrics (23.02.2024)
Published in Frontiers in pediatrics (23.02.2024)
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Journal Article
The First Familiar Case of PTEN-Related Disorder Reported in Albania
Bali, Donjeta, Tabaku, Mirela, Gjikopulli, Agim, Velmishi, Virtut, Tocilla, Behar, Godo, Anila, Cullufi, Paskal
Published in Turkish archives of pediatrics (01.09.2023)
Published in Turkish archives of pediatrics (01.09.2023)
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Genetic characterization of the Albanian Gaucher disease patient population
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
Published in JIMD reports (01.01.2021)
Published in JIMD reports (01.01.2021)
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Journal Article
Sotos Syndrome Type 1 and Type 2: Case Series of 4 Pediatric Patients with Variants in NSD1 and NFIX Genes
Kumaraku, Afërdita Tako, Aleksi, Kristi, Bushati, Aida, Shehu, Armand, Tomori, Sonila, Kollçaku, Laurant, Gjikopulli, Agim, Meçani, Renald, Cullufi, Paskal
Published in Journal of Advances in Medicine and Medical Research (08.02.2023)
Published in Journal of Advances in Medicine and Medical Research (08.02.2023)
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