Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Şahin ERDÖL"'
Publikováno v:
Turkish Journal of Hematology, Vol 28, Iss 04, Pp 286-293 (2011)
Objective: Vitamin B12 deficiency is frequently observed in developing countries. Herein we report the long-term clinical and laboratory outcomes in 45 children presented with various symptoms of vitamin B12 deficiency.Materials and Methods: Symptoms
Externí odkaz:
https://doaj.org/article/a4634fe7da5e46ec8abc0a28f822d6e1
Publikováno v:
Indian Journal of Dermatology, Venereology and Leprology. :1-3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ce43962332c04fd3885580f0ed9f7f20
https://doi.org/10.25259/ijdvl_75_2023
https://doi.org/10.25259/ijdvl_75_2023
Autor:
Tuğba AKBEY KOÇAK, Şahin ERDÖL
Publikováno v:
Volume: 48, Issue: 1 65-69
Uludağ Üniversitesi Tıp Fakültesi Dergisi
Uludağ Üniversitesi Tıp Fakültesi Dergisi
Bu çalışmada sfingolipidoz tanısı ile izlediğimiz hastaların klinik, demografik ve laboratuvar verilerinin değerlendirilmesi amaçlanmıştır. Bursa Uludağ Üniversitesi Tıp Fakültesi Çocuk Metabolizma Hastalıkları Bilim Dalında sfing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8b9c8f6a4969f04d0bc9727100fe215
https://dergipark.org.tr/tr/pub/uutfd/issue/69884/1024593
https://dergipark.org.tr/tr/pub/uutfd/issue/69884/1024593
Autor:
Şahin Erdöl, Hatice Serap Sivri
Publikováno v:
Molecular Genetics and Metabolism. 132:S101-S102
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e14f789ed8362413d00136163b415448
https://doi.org/10.1016/j.ymgme.2020.12.246
https://doi.org/10.1016/j.ymgme.2020.12.246
Autor:
Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen
Publikováno v:
Life, Vol 12, Iss 11, p 1721 (2022)
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and
Externí odkaz:
https://doaj.org/article/800ce92a6de9427e948d1938b211e04c
Autor:
Sahin Erdol MD, Mehmet Ture MD, Tahsin Yakut PhD, Halil Saglam PhD, Hideo Sasai MD, Elsayed Abdelkreem MD, Hiroki Otsuka MD, Toshiyuki Fukao MD, PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency is an autosomal recessive disorder of ketone body utilization that is clinically characterized with intermittent ketoacidosis crises. We report here the second Turkish case with SCOT deficiency
Externí odkaz:
https://doaj.org/article/1f6beff17898491787ca450ad33d0315