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Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Curado F, Rösner S, Zielke S, Westphal G, Grittner U, Skrahina V, Alasel M, Malik AM, Beetz C, Böttcher T, Barel G, Sah AP, Dinur T, Anjum N, Ichraf Q, Kriouile Y, Hadipour Z, Hadipour F, Revel-Vilk S, Cozma C, Hartkamp J, Cheema H, Zimran A, Bauer P, Rolfs A; LYSO-PROOF Study Group. Curado F, et al. Diagnostics (Basel). 2023 Aug 30;13(17):2812. doi: 10.3390/diagnostics13172812. Diagnostics (Basel). 2023. PMID: 37685353 Free PMC article.
The First Familiar Case of PTEN-Related Disorder Reported in Albania.
Bali D, Tabaku M, Gjikopulli A, Velmishi V, Tocilla B, Godo A, Cullufi P. Bali D, et al. Among authors: cullufi p. 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.
Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD.
Sila L, Velmishi V, Saraci B, Dervishi E, Sila S, Shtiza D, Cullufi P. Sila L, et al. Among authors: cullufi p. Balkan J Med Genet. 2023 May 2;25(2):91-95. doi: 10.2478/bjmg-2022-0024. eCollection 2023 May. Balkan J Med Genet. 2023. PMID: 37265976 Free PMC article.
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. 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.
17 results