Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Burcu Civelek Ürey"'
Autor:
Burcu CİVELEK ÜREY, Çiğdem Seher KASAPKARA, Aslı İNCİ, Mehmet GÜNDÜZ, Aslınur ÖZKAYA PARLAKAY, Leyla TUMER, Asburce OLGAC
Publikováno v:
Medical Records. 5:231-6
Aim: Coronavirus disease 2019 (COVID-19) is a severe acute respiratory syndrome with a high mortality rate and has been labeled a global pandemic in March 2020. Gaucher Disease (GD) is one of the rare inherited lysosomal storage diseases (LSDs). We a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3f5d4efbc45d1810fcd08a286c3288a
https://doi.org/10.37990/medr.1139421
https://doi.org/10.37990/medr.1139421
Autor:
Burcu Civelek Ürey, Ahmet Cevdet Ceylan, Büşranur Çavdarlı, Ayşegül Neşe Çıtak Kurt, Oya Kıreker Köylü, Burak Yürek, Çiğdem Seher Kasapkara
Publikováno v:
Molecular Syndromology. 14:171-174
Introductıon: Succinate dehydrogenase deficiency, also known as mitochondrial complex II deficiency, is a rare inborn error of metabolism, accounting for approximately 2% of mitochondrial disease. Mutations in the four genes SDHA, B, C,and D have be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e00093c6fd34b671c24d20af9f4310e3
https://doi.org/10.1159/000527538
https://doi.org/10.1159/000527538
Autor:
Çiğdem Seher Kasapkara, Ahmet Cevdet Ceylan, Deniz Yılmaz, Oya Kıreker Köylü, Burak Yürek, Burcu Civelek Ürey, Mehmet Gündüz
Publikováno v:
Molecular Syndromology. 14:30-34
Introduction: Neuronal ceroid lipofuscinoses (NCLs) are a broad class of inherited lysosomal storage disorders. Known mutations in at least 13 different genes can result in NCL with variable ages of onset, symptoms, and pathologic findings. Generally
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b4766f898142fff7a3cc0ecb27c4a1e
https://doi.org/10.1159/000525100
https://doi.org/10.1159/000525100
Autor:
Burak Yürek, Esra Kılıç, Sare Gülfem Özlü, Burcu Civelek-Ürey, Oya Kıreker-Köylü, Burcu Özen-Yeşil, Cigdem Seher Kasapkara
Publikováno v:
Klinische Padiatrie.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f4642625c50d3ee9020ab99a8e67fc6
https://pubmed.ncbi.nlm.nih.gov/36075239
https://pubmed.ncbi.nlm.nih.gov/36075239
Autor:
Burcu Civelek Ürey, Gülhan Karakaya Molla, Hamit Özyürek, Fatma Müjgan Sönmez, Çiğdem Seher Kasapkara, Ahmet Cevdet Ceylan, Aynur Küçükçongar Yavaş, Oya Kıreker Köylü
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:1185-1189
Objectives Congenital disorders of glycosylation (CDGs) are rare inherited metabolic disorders associated with facial dysmorphism and in the majority of the patients, there is an important neurological impairment. Epilepsy was a main concern in rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1696c58e145827921748ffbf481e9a2
https://doi.org/10.1515/jpem-2021-0292
https://doi.org/10.1515/jpem-2021-0292
Autor:
Ahmet Cevdet Ceylan, Ibrahim Ilker Cetin, Burcu Civelek Ürey, Özlem Ünal Uzun, Çiğdem Seher Kasapkara
Publikováno v:
Cardiology in the young. 31(9)
Malonyl-CoA, a product of acetyl-CoA carboxylase is a metabolic intermediate in lipogenic tissues that include liver and adipose tissue, where it is involved in the de novo fatty acid synthesis and elongation. Malonyl-CoA decarboxylase (MLYCD, E.C.4.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd4bb51363f41cbae5596c39550f2d32
https://pubmed.ncbi.nlm.nih.gov/33745485
https://pubmed.ncbi.nlm.nih.gov/33745485