Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Afërdita Tako"'
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
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
Publikováno v:
International Journal of Advanced Research in Medicine. 4:16-22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cec6bf94001dc185e2aad12986636b14
https://doi.org/10.22271/27069567.2022.v4.i2a.389
https://doi.org/10.22271/27069567.2022.v4.i2a.389
Publikováno v:
American Journal of Medical Case Reports. 10:268-270
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::811af56374c1e66aa0e49c824e0b4417
https://doi.org/10.12691/ajmcr-10-10-4
https://doi.org/10.12691/ajmcr-10-10-4
Autor:
Armand Shehu, Kliti Pilika, Anita Pilika, Aida Bushati, Aferdita Tako, Kristi Aleksi, Ermioni Prifti, Baftjar Hysenaj, Aldo Shpuza
Publikováno v:
International Journal of Biomedicine, Vol 13, Iss 4, Pp 367-370 (2023)
Acute transverse myelitis (ATM) is a rare inflammatory spinal cord disorder with varied clinical manifestations, particularly in the pediatric demographic. This report details the case of a 3-year-old child from Dibra, Albania, admitted with fever an
Externí odkaz:
https://doaj.org/article/f625e27d1ba14e9b9910e8db9c356293
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
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