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Page 1
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.
Of the 12 different GBA alleles that we detected, the most frequently observed was p.Asn409Ser, followed by p.[Asp448His;His294Gln]. The prevalence of the p.Leu483Pro allele was approximately 10-fold lower than reported in other populations. We identified a n …
Of the 12 different GBA alleles that we detected, the most frequently observed was p.Asn409Ser, followed by p.[Asp448His;His29 …
Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa.
Velmishi V, Troja E, Tanka M, Bali D, Dervishi E, Tako A, Kollcaku L, Cullufi P. Velmishi V, et al. Among authors: cullufi p. J Osteoporos. 2023 Dec 4;2023:3254533. doi: 10.1155/2023/3254533. eCollection 2023. J Osteoporos. 2023. PMID: 38090017 Free PMC article.
Our study showed a significant improvement in BMD comparing FU5 and baseline values (p = 0.0007). Especially children demonstrated a significant improvement in BMD (p = 0.00061) compared to adults (p = 0.3673). Mean BMD change was more indicative in switched …
Our study showed a significant improvement in BMD comparing FU5 and baseline values (p = 0.0007). Especially children demonstrated a …
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.
Suspecting ADKPD, we performed whole exome sequencing, thereby confirming a mutation of c.6730 673del p.(Ser 2244Hisfs*17). The investigations of all family members found other individuals affected by ADKPD....
Suspecting ADKPD, we performed whole exome sequencing, thereby confirming a mutation of c.6730 673del p.(Ser 2244Hisfs*17). The inves …
Wilson's disease in Albania.
Adhami EJ, Cullufi P. Adhami EJ, et al. Among authors: cullufi p. Panminerva Med. 1995 Mar;37(1):18-21. Panminerva Med. 1995. PMID: 7478717

Comparing these data with a control group of 60 alcoholic or viral cirrhosis with hypersplenism, it was found that hypersplenism is encountered in younger ages (p < 0.0001). The platelets were lower in WD than in the control group (p < 0.05), but leucocytes we

…
Comparing these data with a control group of 60 alcoholic or viral cirrhosis with hypersplenism, it was found that hypersplenism is encounte …
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. Front Pediatr. 2024 Feb 23;12:1352179. doi: 10.3389/fped.2024.1352179. eCollection 2024. Front Pediatr. 2024. PMID: 38464899 Free PMC article.
From baseline to end line the parameters change as follows: hemoglobin concentration improved from 12.7 (1.3) to 14.6 (1.5) and platelet count from 180 (74) to 198 (79). The spleen volume, was reduced by 46% (p = 0,007). The chitotriosidase activity decreased from 4,019.7 …
From baseline to end line the parameters change as follows: hemoglobin concentration improved from 12.7 (1.3) to 14.6 (1.5) and platelet cou …