المؤلفون: 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

المصدر: Life, Vol 12, Iss 11, p 1721 (2022)

مصطلحات موضوعية: ornithine transcarbamylase deficiency, hyperammonaemia, neonatal-onset, late-onset, asymptomatic, protein restriction, Science

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-1729/12/11/1721; https://doaj.org/toc/2075-1729

URL الوصول: https://doaj.org/article/800ce92a6de9427e948d1938b211e04c

المؤلفون: Rabia Eren, Buket Canlan Özaydın, Emine Göksoy, Zehra Manav Yiğit, Börte Gürbüz Özgür

المصدر: Journal of Behçet Uz Children's Hospital, Vol 14, Iss 3, Pp 195-198 (2024)

مصطلحات موضوعية: arginase deficiency disorder, autism spectrum disorder, inborn errors of metabolism, neurodevelopmental disorders, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=behcetuz&plng=eng&un=BUCHD-39112; https://doaj.org/toc/2822-4469

URL الوصول: https://doaj.org/article/b4b104ab920747319d5b4b68e993411a

المؤلفون: Ayşe Ergül Bozacı, Emine Göksoy, Aysel Tekmenuray Ünal, Hatice Mutlu Albayrak, İbrahim Taş, Berat Kanar, Mehmet Nuri Özbek, Melis Köse

المصدر: Journal of Pediatric Research, Vol 10, Iss 3, Pp 182-194 (2023)

مصطلحات موضوعية: urea cycle disorders, hyperammonemia, citrullinemia, inborn errors of metabolism, therapeutic hypothermia, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://jpedres.org/archives/archive-detail/article-preview/evaluation-of-the-neurodevelopmental-status-for-ur/62076; https://doaj.org/toc/2147-9445; https://doaj.org/toc/2587-2478

URL الوصول: https://doaj.org/article/e3748e19c3c44e969f25d57aa5af3721