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

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Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series by 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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GP287 Fanconi bickel syndrome and renal tubular dysfunction by Yildirim, Gözde Atasever, Bulut, Fatma Derya, Atmiş, Bahriye, Kilavuz, Sebile, Kör, Deniz, Bayazit, Aysun Karabay, Neslihan Önenli Mungan, Halise

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GP49 Munchausen by proxy syndrome in three siblings diagnosed as isovaleric acidemia by Öz, Sibel, Kılavuz, Sebile, Kor, Deniz, Bulut, Fatma Derya, Yılmaz, Berna Şeker, Bayazıt, Aysun Karabay, Neslihan Önenli Mungan, Halise

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P433 An interesting case diagnosed as both phenylketonuria and maternal phenylketonuria by Öz, Sibel, Kor, Deniz, Kılavuz, Sebile, Bulut, Fatma Derya, Yılmaz, Berna Şeker, Demir, Fadli, Kartal, Tuğçe Özakçaoğlu, Yıldırım, Gözde Atasever, Neslihan Önenli Mungan, Halise

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OP-122 Mucopolysaccharidosis type II in turkey from the east to the west by 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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Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective by Arslan, Nur, Coker, Mahmut, Gokcay, Gulden Fatma, Kiykim, Ertugrul, Onenli Mungan, Halise Neslihan, Ezgu, Fatih

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

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A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation by 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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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines by 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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