Paskal Cullufi
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Explore the profile of Paskal Cullufi including associated specialties, affiliations and a list of published articles.
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11
Citations
43
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Recent Articles
1.
Tabaku M, Tomori S, Dervishi E, Kurushi E, Gjikopulli A, Cullufi P
Gene
. 2025 Jan;
940():149213.
PMID: 39761800
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to...
2.
Westenberger A, Skrahina V, Usnich T, Beetz C, Vollstedt E, Laabs B, et al.
Brain
. 2024 Aug;
147(8):2652-2667.
PMID: 39087914
Estimates of the spectrum and frequency of pathogenic variants in Parkinson's disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has...
3.
Velmishi V, Alushani D, Dervishi E, Heta S, Sila S, Cullufi P
Case Rep Med
. 2024 May;
2024:1070253.
PMID: 38736458
Background: Duodenal atresia or stenosis are different degrees of the same abnormality. They usually occur at the level of the ampulla of Vater and are thought to be an embryologic...
4.
Cullufi P, Tomori S, Velmishi V, Gjikopulli A, Akshija I, Tako A, et al.
Front Pediatr
. 2024 Mar;
12:1352179.
PMID: 38464899
Introduction: Enzyme replacement therapy is already recognized as the gold standard of care for patients with Gaucher disease. Taliglucerase alfa is one of the three alternatives recommended for treatment of...
5.
Velmishi V, Troja E, Tanka M, Bali D, Dervishi E, Tako A, et al.
J Osteoporos
. 2023 Dec;
2023:3254533.
PMID: 38090017
Gaucher disease is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunctions in multiple organs. Bone involvement is one of the most prevalent aspects of Gaucher disease. Pain,...
6.
Bali D, Tabaku M, Gjikopulli A, Velmishi V, Tocilla B, Godo A, et al.
Turk Arch Pediatr
. 2023 Aug;
58(5):559-561.
PMID: 37534462
No abstract available.
7.
Tabaku M, Tomori S, Cullufi P, Dervishi E, Paknia O, Bauer P
Mol Genet Metab Rep
. 2022 Oct;
33:100927.
PMID: 36274669
Diets-Jongmans syndrome, DIJOS, is a very recently described autosomal dominant condition, which is caused by heterozygous pathogenic variants in gene and characterized by impaired intellectual development, short stature, as well...
8.
Cullufi P, Tabaku M, Velmishi V, Gjikopulli A, Tomori S, Dervishi E, et al.
JIMD Rep
. 2021 Jan;
57(1):52-57.
PMID: 33473340
Gaucher disease (GD) is a recessive metabolic disorder caused by a deficiency of the gene-encoded enzyme β-glucocerebrosidase. We characterized a cohort of 36 Albanian GD patients, 31 with GD type...
9.
Cozma C, Cullufi P, Kramp G, Hovakimyan M, Velmishi V, Gjikopulli A, et al.
Int J Mol Sci
. 2020 Jul;
21(13).
PMID: 32605119
Gaucher disease (GD) is a lysosomal storage disorder that responds well to enzyme replacement therapy (ERT). Certain laboratory parameters, including blood concentration of glucosylsphingosine (Lyso-Gb1), the lyso-derivate of the common...
10.
Velmishi V, Dervishi E, Cullufi P, Bali D, Durro V
Virol J
. 2012 Jan;
9:17.
PMID: 22244498
Background: Treatment of Hepatitis C in children has a better outcome than in adults, and for this reason the treatment had different views. However, in pediatric age hepatitis C is...