Search Results - "Zubarioglu, T"

Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations by Ozkinay, F., Emecen, D.A., Kose, M., Isik, E., Bozaci, A.E., Canda, E., Tuysuz, B., Zubarioglu, T., Atik, T., Onay, H.

“…Mucopolysaccharidosis type III B (MPS IIIB) is an autosomal recessive lysosomal storage disease caused by mutations in the NAGLU gene which codes the lysosomal…”
Get full text

Screening of free carnitine and acyl-carnitine status in patients with Familial Mediterranean Fever by Kiykim, E, Barut, K, Aktuglu-Zeybek, AC, Zubarioglu, T, Cansever, MS, Aydin, A, Kasapcopur, O

Get full text

Screening for inherited metabolic disorders in patients with Familial Mediterranean Fever by Kiykim, E, Aktuglu-Zeybek, AC, Barut, K, Zubarioglu, T, Cansever, MS, Aydin, A, Kasapcopur, O

Get full text

CITRIN DEFICIENCY: AN INFANT INCIDENTALLY DETECTED BY PHENYLKETONURIA SCREENING WITH A NOVEL MUTATION IN SLC25A13 GENE by Zeybek, A C Aktuglu, Kiykim, E, Zubarioglu, T, Cansever, M S, Ceylaner, S, Erkan, T

“…We report the first Turkish patient with citrin deficiency detected incidentally by phenylketonuria screening. Mild cholestasis, increased α-fetoprotein level,…”
Get more information

A NOVEL ASPARTYLGLUCOSAMINURIA MUTATION IN A PATIENT WITH CO-EXISTENCE OF GAUCHER DISEASE by Kiykim, E, Zubarioglu, T, Gorukmez, O, Gunes, S, Cansever, M S, Zeybek, A C Aktuglu

Get more information

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency by Seker Yilmaz, Berna, Baruteau, Julien, Arslan, Nur, Aydin, Halil Ibrahim, Barth, Magalie, Bozaci, Ayse Ergul, Brassier, Anais, Canda, Ebru, Cano, Aline, Chronopoulou, Efstathia, Connolly, Grainne M, Damaj, Lena, Dawson, Charlotte, Dobbelaere, Dries, Douillard, Claire, Eminoglu, Fatma Tuba, Erdol, Sahin, Ersoy, Melike, Fang, Sherry, Feillet, François, Gokcay, Gulden, Goksoy, Emine, Gorce, Magali, Inci, Asli, Kadioglu, Banu, Kardas, Fatih, Kasapkara, Cigdem Seher, Kilic Yildirim, Gonca, Kor, Deniz, Kose, Melis, Marelli, Cecilia, Mundy, Helen, O'Sullivan, Siobhan, Ozturk Hismi, Burcu, Ramachandran, Radha, Roubertie, Agathe, Sanlilar, Mehtap, Schiff, Manuel, Sreekantam, Srividya, Stepien, Karolina M, Uzun Unal, Ozlem, Yildiz, Yilmaz, Zubarioglu, Tanyel, Gissen, Paul

“…X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to…”
Get full text