Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ayça Burcu Kahraman"'
Autor:
Yilmaz Yildiz, Hatice Serap Sivri, Ayça Burcu Kahraman, Ayşegül Tokatlı, Ali Dursun, İzzet Erdal, Halil Tuna Akar, Kısmet Çıkı
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 34:539-545
Objectives Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal diseases, enzyme replacement therapy (ERT) is administered intravenously in weekly o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22b7a1245eb644c4bba199de77e5f49
https://doi.org/10.1515/jpem-2021-0067
https://doi.org/10.1515/jpem-2021-0067
Autor:
H. Serap Sivri, Halil Tuna Akar, Ayça Burcu Kahraman, Ali Dursun, Yilmaz Yildiz, Kısmet Çıkı, İzzet Erdal, Yamaç Karaboncuk, Turgay Coşkun, Ayşegül Tokatlı
Publikováno v:
The Turkish journal of pediatrics. 63(5)
Background Phenylketonuria (PKU) is an inherited disorder of amino acid metabolism, the treatment of which often requires a special diet to prevent adverse neuropsychiatric outcomes. In the COVID-19 pandemic, which has had a substantial effect on the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::287a230e2150829d7698ed0c33d39590
https://pubmed.ncbi.nlm.nih.gov/34738361
https://pubmed.ncbi.nlm.nih.gov/34738361
Autor:
Yilmaz Yildiz, Can Kosukcu, Kader Karli Oguz, Ceren Günbey, Neşe Vardar Acar, Dilek Yalnizoglu, Ali Dursun, Halil Tuna Akar, Basri Gülbakan, Didem Yücel Yılmaz, R. Köksal Özgül, Ayça Burcu Kahraman
Publikováno v:
European Journal of Medical Genetics. 64:104340
ELFN1, a transmembrane leucine rich repeat protein, is involved in signal transduction in both neural cells and ROD ON-bipolar synaptogenesis. We present three siblings with developmental and epileptic encephalopathy and co-morbidities due to ELFN1 g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48d0ea050afd4ce2ebe34a16e53d97e
https://doi.org/10.1016/j.ejmg.2021.104340
https://doi.org/10.1016/j.ejmg.2021.104340