Scopus Eşleşmesi Bulundu
7
Atıf
12
Cilt
🔓
Açık Erişim
Scopus Yazarları: Claire Douillard, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadıoğlu Yılmaz, Fatih Kardaş, 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, 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, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang
Özet
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-survey that was sent to 75 metabolic centres in Turkey, France and the UK. Thirty-nine centres responded and 495 patients were reported in total. A total of 208 French patients were reported, including 71 (34%) males, 86 (41%) symptomatic and 51 (25%) asymptomatic females. Eighty-five Turkish patients included 32 (38%) males, 39 (46%) symptomatic and 14 (16%) asymptomatic females. Out of the 202 UK patients, 66 (33%) were male, 83 (41%) asymptomatic and 53 (26%) symptomatic females. A total of 19%, 12% and 7% of the patients presented with a neonatal-onset phenotype in France, Turkey and the UK, respectively. Vomiting, altered mental status and encephalopathy were the most common initial symptoms in all three countries. While 69% in France and 79% in Turkey were receiving protein restriction, 42% were on a protein-restricted diet in the UK. A total of 76%, 47% and 33% of patients were treated with ammonia scavengers in Turkey, France and the UK, respectively. The findings of our audit emphasize the differences and similarities in manifestations and management practices in three countries.
Anahtar Kelimeler (Scopus)
ammonia scavengers
asymptomatic
hyperammonaemia
late-onset
liver transplantation
neonatal-onset
ornithine transcarbamylase deficiency
protein restriction
Anahtar Kelimeler
ammonia scavengers
asymptomatic
hyperammonaemia
late-onset
liver transplantation
neonatal-onset
ornithine transcarbamylase deficiency
protein restriction
Makale Bilgileri
Dergi
Life-Basel
ISSN
2075-1729
Yıl
2022
/ 11. ay
Cilt / Sayı
12
/ 11
Sayfalar
1721 – 1721
Makale Türü
Özgün Makale
Hakemlik
Hakemli
Endeks
SCI-Expanded
JCR Quartile
Q2
Yayın Dili
İngilizce
Kapsam
Uluslararası
Toplam Yazar
45 kişi
Erişim Türü
Elektronik
Erişim Linki
Makaleye Git
Alan
Sağlık Bilimleri Temel Alanı
Çocuk Metabolizma Hastalıkları (Çocuk Sağlığı ve Hastalıkları)
YÖKSİS Yazar Kaydı
Yazar Adı
Seker Yilmaz Berna,Baruteau Julien,ARSLAN NUR,AYDIN HALİL İBRAHİM,Barth Magalie,BOZACI AYŞE ERGÜL,Brassier Anais,CANDA EBRU,Cano Aline,Chronopoulou Efstathia,Connolly Grainne M.,Damaj Lena,Dawson Charlotte,Dobbelaere Dries,Douillard Claire,EMİNOĞLU FATMA TUBA,ERDÖL ŞAHİN,Ersoy Melike,Fang Sherry,Feillet François,Gokcay Gulden,GÖKSOY EMİNE,Gorce Magali,İNCİ ASLI,KADIOĞLU YILMAZ BANU,KARDAŞ FATİH,KASAPKARA ÇİĞDEM SEHER,KILIÇ YILDIRIM GONCA,KOR DENİZ,Kose Melis,Marelli Cecilia,Mundy Helen,O’Sullivan Siobhan,ÖZTÜRK HİŞMİ BURCU,Ramachandran Radha,Roubertie Agathe,Sanlilar Mehtap,Schiff Manuel,Sreekantam Srividya,Stepien Karolina M,ÜNAL UZUN ÖZLEM,YILDIZ YILMAZ,ZÜBARİOĞLU TANYEL,Gissen Paul
YÖKSİS ID
6761208
Hızlı Erişim
Metrikler
Scopus Atıf
7
JCR Quartile
Q2
Yazar Sayısı
45