Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

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 management of OTCD, using an online 12-question-su...

Volledige beschrijving

Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artikel
Taal:English
Gepubliceerd in: MDPI AG 2022-10-01
Reeks:Life
Onderwerpen:
ornithine transcarbamylase deficiency
hyperammonaemia
neonatal-onset
late-onset
asymptomatic
protein restriction
Online toegang:https://www.mdpi.com/2075-1729/12/11/1721

Internet

https://www.mdpi.com/2075-1729/12/11/1721

Gelijkaardige items