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Page 1
The First Familiar Case of PTEN-Related Disorder Reported in Albania.
Turk Arch Pediatr. 2023 Sep;58(5):559-561. doi: 10.5152/TurkArchPediatr.2023.23093.
Turk Arch Pediatr. 2023.
PMID: 37534462
Free PMC article.
No abstract available.
Genetic characterization of the Albanian Gaucher disease patient population.
Cullufi P, Tabaku M, Velmishi V, Gjikopulli A, Tomori S, Dervishi E, Tako A, Leubauer A, Westenberger A, Cozma C, Beetz C, Bauer P, Wirth S, Rolfs A.
Cullufi P, et al. Among authors: gjikopulli a.
JIMD Rep. 2020 Nov 17;57(1):52-57. doi: 10.1002/jmd2.12167. eCollection 2021 Jan.
JIMD Rep. 2020.
PMID: 33473340
Free PMC article.
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Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots.
Cozma C, Cullufi P, Kramp G, Hovakimyan M, Velmishi V, Gjikopulli A, Tomori S, Fischer S, Oppermann S, Grittner U, Bauer P, Beetz C, Rolfs A.
Cozma C, et al. Among authors: gjikopulli a.
Int J Mol Sci. 2020 Jun 27;21(13):4577. doi: 10.3390/ijms21134577.
Int J Mol Sci. 2020.
PMID: 32605119
Free PMC article.
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Taliglucerase alfa in the longterm treatment of children and adolescents with type 1 Gaucher disease: the Albanian experience.
Cullufi P, Tomori S, Velmishi V, Gjikopulli A, Akshija I, Tako A, Dervishi E, Hoxha G, Tanka M, Troja E, Tabaku M.
Cullufi P, et al. Among authors: gjikopulli a.
Front Pediatr. 2024 Feb 23;12:1352179. doi: 10.3389/fped.2024.1352179. eCollection 2024.
Front Pediatr. 2024.
PMID: 38464899
Free PMC article.
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