Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series
Kılavuz, Sebile, Basaran, Sibel, Kor, Deniz, Bulut, Fatma Derya, Erdem, Sevcan, Ballı, Hüseyin Tuğsan, Dağkıran, Muhammed, Bisgin, Atil, Mungan, Halise Neslihan Önenli
Published in Orphanet journal of rare diseases (22.03.2021)
Published in Orphanet journal of rare diseases (22.03.2021)
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Journal Article
Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign
Inan, Ayse Hitay, Yilmaz, Berna Seker, Bulut, Fatma Derya, Kilavuz, Sebile, Kor, Deniz, Karakas, Mehmet, Mungan, Halise Neslihan Onenli
Published in The journal of pediatric research (01.06.2021)
Published in The journal of pediatric research (01.06.2021)
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Journal Article
GP49 Munchausen by proxy syndrome in three siblings diagnosed as isovaleric acidemia
Öz, Sibel, Kılavuz, Sebile, Kor, Deniz, Bulut, Fatma Derya, Yılmaz, Berna Şeker, Bayazıt, Aysun Karabay, Neslihan Önenli Mungan, Halise
Published in Archives of disease in childhood (01.06.2019)
Published in Archives of disease in childhood (01.06.2019)
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Journal Article
P433 An interesting case diagnosed as both phenylketonuria and maternal phenylketonuria
Öz, Sibel, Kor, Deniz, Kılavuz, Sebile, Bulut, Fatma Derya, Yılmaz, Berna Şeker, Demir, Fadli, Kartal, Tuğçe Özakçaoğlu, Yıldırım, Gözde Atasever, Neslihan Önenli Mungan, Halise
Published in Archives of disease in childhood (01.06.2019)
Published in Archives of disease in childhood (01.06.2019)
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Journal Article
Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective
Arslan, Nur, Coker, Mahmut, Gokcay, Gulden Fatma, Kiykim, Ertugrul, Onenli Mungan, Halise Neslihan, Ezgu, Fatih
Published in Frontiers in pediatrics (26.06.2023)
Published in Frontiers in pediatrics (26.06.2023)
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Journal Article
OP-122 Mucopolysaccharidosis type II in turkey from the east to the west
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
Published in BMJ paediatrics open (11.07.2024)
Published in BMJ paediatrics open (11.07.2024)
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Journal Article
Hiperkarotenemi
Cansever Övetti, Nefise Hilal, Önenli Mungan, Halise Neslihan, Yılmaz, Berna Şeker, Bulut, Fatma Derya
Published in Cukurova Medical Journal (30.06.2018)
Published in Cukurova Medical Journal (30.06.2018)
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Journal Article
The Analysis Of The Phenylalanine Hydroxylase Gene Mutations By Sequencing And ARMS Techniques İn Turkish Patients
Kasap,Halil, Pazarbaşı,Ayfer, Alptekin,Davut, Pazarcı,Perçin, Lüleyap,Hüsnü Ümit, Cömertpay,Gamze, Önenli Mungan,Halise Neslihan, Froster,Ursula
Published in Cukurova Medical Journal (01.12.2016)
Published in Cukurova Medical Journal (01.12.2016)
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Journal Article
A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation
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
Published in Metabolic brain disease (01.04.2022)
Published in Metabolic brain disease (01.04.2022)
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Journal Article
Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia
Şeker Yılmaz, Berna, Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Ceylaner, Serdar, Önenli Mungan, Halise Neslihan
Published in Turkish journal of medical sciences (28.06.2021)
Published in Turkish journal of medical sciences (28.06.2021)
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Journal Article
Türk hastalarda Fenilalanin Hidroksilaz gen mutasyonlarının dizileme ve ARMS teknikleri ile incelenmesi
Lüleyap, Ümit, Pazarcı, Perçin, Cömertpay, Gamze, Önenli, Halise Neslihan, Pazarbaşı, Ayfer, Alptekin, Davut, Kasap, Halil, Froster, Ursula
Published in Çukurova Üniversitesi tip fakültesi dergisi (31.12.2016)
Published in Çukurova Üniversitesi tip fakültesi dergisi (31.12.2016)
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Journal Article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
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
Published in Nature communications (20.09.2021)
Published in Nature communications (20.09.2021)
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Journal Article
Mukopolisakkaridozlu hastalarda vitamin B12 düzeyleri
KOR, Deniz, BULUT, Fatma Derya, ŞEKER, Berna, KILAVUZ, Sebile, ÖNENLİ MUNGAN, H. Neslihan
Published in Cukurova Medical Journal (30.06.2020)
Published in Cukurova Medical Journal (30.06.2020)
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Journal Article
The Importance of Genetic Diagnosis for Inherited Metabolic Diseases: Distribution and Experience of Cukurova University Faculty of Medicine Balcali Hospital
TUĞ BOZDOĞAN, Sevcan, ÖNENLİ MUNGAN, Halise Neslihan, BOĞA, İbrahim, BÜYÜKKURT, Selim, BİŞGİN, Atıl
Published in Acibadem Universitesi Saglik Bilimleri Dergisi (16.12.2020)
Published in Acibadem Universitesi Saglik Bilimleri Dergisi (16.12.2020)
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Journal Article
Evaluation of Clinical and Molecular Features of 20 Patients with Urea Cycle Enzyme Deficiency: Cukurova University Experience with Eight New Mutations
KOR, Deniz, SEKER YILMAZ, Berna, BULUT, Fatma Derya, KILAVUZ, Sebile, ÖNENLİ MUNGAN, Halise Neslihan
Published in Türkiye çocuk hastalıkları dergisi (20.12.2018)
Published in Türkiye çocuk hastalıkları dergisi (20.12.2018)
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