Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Paskal Cullufi"'
Autor:
Agim Gjikopulli, Sonila Tomori, Donjeta Bali, Paskal Cullufi, Laurant Kollcaku, Mirela Tabaku, Anila Babameto
Publikováno v:
International Journal of Biomedicine, Vol 14, Iss 2, Pp 275-281 (2024)
Background: There is no doubt that the use of rhGH in patients with TS brings satisfactory results regarding the improvement of height growth, realizing the improvement of the final adult height. This study aimed to evaluate the influence of the type
Externí odkaz:
https://doaj.org/article/58e57ac111d3459c8ed2e23469d6c612
Autor:
Paskal Cullufi, Sonila Tomori, Virtut Velmishi, Agim Gjikopulli, Ilir Akshija, Aferdita Tako, Ermira Dervishi, Gladiola Hoxha, Marjeta Tanka, Erjon Troja, Mirela Tabaku
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionEnzyme 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 Gaucher disease in children and adults.AimTh
Externí odkaz:
https://doaj.org/article/5b59ef8b67cb46379e3cfb388e274ee5
Publikováno v:
Case Reports in Medicine, Vol 2024 (2024)
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 defect during the development of the foregut, leading to abnormal rec
Externí odkaz:
https://doaj.org/article/aec1bff71331473094d4d1db3f21c735
Autor:
Virtut Velmishi, Erjon Troja, Marjeta Tanka, Donjeta Bali, Ermira Dervishi, Afërdita Tako, Laurant Kollcaku, Paskal Cullufi
Publikováno v:
Journal of Osteoporosis, Vol 2023 (2023)
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, disability, and reduced quality of life remain th
Externí odkaz:
https://doaj.org/article/346eaba71eb0486694872dfc8a99569a
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100927- (2022)
Diets-Jongmans syndrome, DIJOS, is a very recently described autosomal dominant condition, which is caused by heterozygous pathogenic variants in KDM3B gene and characterized by impaired intellectual development, short stature, as well as facial dysm
Externí odkaz:
https://doaj.org/article/0fdc19bee32f455b8c726efaa136a2c3
Autor:
Paskal Cullufi, Renald Meçani, Agim Gjikopulli, Laurant Kollçaku, Sonila Tomori, Armand Shehu, Aida Bushati, Kristi Aleksi, Afërdita Tako Kumaraku
Publikováno v:
Journal of Advances in Medicine and Medical Research. :46-50
Sotos syndrome is a rare genetic disorder with autosomal dominant inheritance, marked by overgrowth with macrocephaly, a distinctive facial appearance, and intellectual impairment. It occurs due to pathogenic variants encompassing the NSD1 gene. In a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c94b639ec588d060099b861e464027f7
https://doi.org/10.9734/jammr/2023/v35i34953
https://doi.org/10.9734/jammr/2023/v35i34953
Autor:
Aferdita Tako Kumaraku, Kristi Aleksi, Aida Bushati, Armand Shehu, Sonila Tomori, Renald Mecani, Paskal Cullufi
Publikováno v:
International Journal of Research in Medical Sciences. 11:678-681
Tuberous sclerosis complex (TSC) is a multisystemic genetic disorder with autosomal dominant inheritance, characterized by hamartomas that affect multiple organs, including the central nervous system, skin, heart, kidneys, and lungs. It occurs due to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::346913d42e2e2b4285f1cc1e48b3f575
https://doi.org/10.18203/2320-6012.ijrms20230184
https://doi.org/10.18203/2320-6012.ijrms20230184
Publikováno v:
Psihiatru.ro. 1:22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45cceae246148c946081f115ed8d75d7
https://doi.org/10.26416/psih.72.1.2023.7931
https://doi.org/10.26416/psih.72.1.2023.7931
Autor:
Anika Leubauer, Ana Westenberger, Paskal Cullufi, Mirela Tabaku, Arndt Rolfs, Peter Bauer, Ermira Dervishi, Sonila Tomori, Stefan Wirth, Christian Beetz, Claudia Cozma, Agim Gjikopulli, Aferdita Tako, Virtut Velmishi
Publikováno v:
JIMD Reports
Gaucher disease (GD) is a recessive metabolic disorder caused by a deficiency of the GBA gene‐encoded enzyme β‐glucocerebrosidase. We characterized a cohort of 36 Albanian GD patients, 31 with GD type 1 and 5 affected by GD types 2, 3, and an in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05661562ea210778f1ca9f5cc61e3909
https://pubmed.ncbi.nlm.nih.gov/33473340
https://pubmed.ncbi.nlm.nih.gov/33473340
Autor:
Agim Gjikopulli, Guido Kramp, Peter Bauer, Paskal Cullufi, Marina Hovakimyan, Arndt Rolfs, Claudia Cozma, Sonila Tomori, Christian Beetz, Ulrike Grittner, Sebastian Oppermann, Virtut Velmishi, Steffen Fischer
Publikováno v:
International Journal of Molecular Sciences
Volume 21
Issue 13
International Journal of Molecular Sciences, Vol 21, Iss 4577, p 4577 (2020)
Volume 21
Issue 13
International Journal of Molecular Sciences, Vol 21, Iss 4577, p 4577 (2020)
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 glycolipid gl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99e1911ec254ee8e0aafeaa7ccb16308
https://doi.org/10.3390/ijms21134577
https://doi.org/10.3390/ijms21134577