Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Ermira, Dervishi"'
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
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
Publikováno v:
Journal of Gastrointestinal & Digestive System.
Introduction: Celiac disease, is an autoimmune disorder of the small intestine that occurs in genetically predisposed people. Symptoms include pain and discomfort in the digestive tract, chronic constipation and diarrhoea, failure to thrive, anaemia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a38f9cdd822d1a03de139aa67ee264d
https://doi.org/10.4172/2161-069x.1000411
https://doi.org/10.4172/2161-069x.1000411
Publikováno v:
International Journal of Ecosystems & Ecology Sciences; Jan-Mar2019, Vol. 9 Issue 1, p83-92, 10p
Publikováno v:
Virology Journal, Vol 9, Iss 1, p 17 (2012)
Virology Journal
Virology Journal
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 seen to have an evolution towards chronicity. Today is a normal optio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b84d70d710e507012ca974a94e243c0
http://www.virologyj.com/content/9/1/17
http://www.virologyj.com/content/9/1/17
Publikováno v:
Molecular Genetics and Metabolism. 108:S95
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71f0833bced9b74d604400c5e2039705
https://doi.org/10.1016/j.ymgme.2012.11.260
https://doi.org/10.1016/j.ymgme.2012.11.260