Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign von Hitay İnan, Ayşe, Şeker Yılmaz, Berna, Bulut, Fatma Derya, Kılavuz, Sebile, Kor, Deniz, Karakaş, Mehmet, Önenli Mungan, Halise Neslihan

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Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series von Kılavuz, Sebile, Basaran, Sibel, Kor, Deniz, Bulut, Fatma Derya, Erdem, Sevcan, Ballı, Hüseyin Tuğsan, Dağkıran, Muhammed, Bisgin, Atil, Mungan, Halise Neslihan Önenli

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Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective von Arslan, Nur, Coker, Mahmut, Gokcay, Gulden Fatma, Kiykim, Ertugrul, Onenli Mungan, Halise Neslihan, Ezgu, Fatih

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A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation von Kılavuz, Sebile, Basaranoglu, Murat, Epcacan, Serdar, Bako, Derya, Ozer, Arife, Donmez, Yasemin Nuran, Ceylan, Emine Ipek, Tukun, Ajlan, Ceylaner, Serdar, Geylani, Hadi, Mungan, Halise Neslihan Onenli

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Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia von ŞEKER YILMAZ, Berna, KÖR, Deniz, BULUT, Fatma Derya, KILAVUZ, Sebile, CEYLANER, Serdar, ÖNENLİ MUNGAN, Halise Neslihan

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OP-122 Mucopolysaccharidosis type II in turkey from the east to the west von Yazıcı, Havva, Kara, Esra, Bulut, Fatma Derya, Çelik, Merve Yoldaş, Köşeci, Burcu, Karapınar, Fehime Erdem, Burgaç, Ezgi, Yanbolu, Ayşe Yüksel, Kaplan, İrem, Durmaz, Asude, Aykut, Ayça, Canda, Ebru, Kor, Deniz, Uçar, Sema Kalkan, Sözmen, Eser, Çoker, Mahmut, Önenli Mungan, Halise Neslihan

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Hiperkarotenemi von Nefise Hilal Cansever Övetti, Halise Neslihan Önenli Mungan, Berna Şeker Yılmaz, Fatma Derya Bulut

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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines von Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., García-Cazorla, Angeles, Opladen, Thomas

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Evaluation of Clinical and Molecular Features of 20 Patients with Urea Cycle Enzyme Deficiency: Cukurova University Experience with Eight New Mutations von KOR, Deniz, SEKER YILMAZ, Berna, BULUT, Fatma Derya, KILAVUZ, Sebile, ÖNENLİ MUNGAN, Halise Neslihan

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Mukopolisakkaridozlu hastalarda vitamin B12 düzeyleri von Kor,Deniz, Bulut,Derya, Şeker Yılmaz,Berna, Kılavuz,Sebile, Önenli Mungan,Halise Neslihan

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The Analysis Of The Phenylalanine Hydroxylase Gene Mutations By Sequencing And ARMS Techniques İn Turkish Patients von Kasap,Halil, Pazarbaşı,Ayfer, Alptekin,Davut, Pazarcı,Perçin, Lüleyap,Hüsnü Ümit, Cömertpay,Gamze, Önenli Mungan,Halise Neslihan, Froster,Ursula

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Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign von Inan, Ayse Hitay, Yilmaz, Berna Seker, Bulut, Fatma Derya, Kilavuz, Sebile, Kor, Deniz, Karakas, Mehmet, Mungan, Halise Neslihan Onenli

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