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
Evaluation of bone health in patients with mucopolysaccharidosis
Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Şeker Yılmaz, Berna, Köşeci, Burcu, Kara, Esra, Kaya, Ömer, Başaran, Sibel, Seydaoğlu, Gülşah, Önenli Mungan, Neslihan
Published in Journal of bone and mineral metabolism (01.05.2022)
Published in Journal of bone and mineral metabolism (01.05.2022)
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Journal Article
Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children
Goksen, Damla, Yesilkaya, Ediz, Ozen, Samim, Kor, Yilmaz, Eren, Erdal, Korkmaz, Ozlem, Berberoglu, Merih, Karaguzel, Gulay, Er, Eren, Abaci, Ayhan, Evliyaoglu, Olcay, Akbas, Emine Demet, Unal, Edip, Bolu, Semih, Nalbantoglu, Ozlem, Anik, Ahmet, Tayfun, Meltem, Buyukinan, Muammer, Abali, Saygin, Yilmaz, Gulay Can, Kor, Deniz, Sobu, Elif, Siklar, Zeynep, Polat, Recep, Darcan, Sukran
Published in Journal of clinical research in pediatric endocrinology (01.12.2021)
Published in Journal of clinical research in pediatric endocrinology (01.12.2021)
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Journal Article
Sodium Valproate-induced Adult-onset Type 2 Citrullinemia
Ateş, Başak Elçin, Demir, Turgay, Kor, Deniz, Şahin, Remzi Emre, Bıçakçı, Şebnem
Published in Türk nöroloji dergisi (01.09.2022)
Published in Türk nöroloji dergisi (01.09.2022)
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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
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
A Case of Glutaric Aciduria Type I with a Novel Mutation
Nilgun Uyduran Unal, Deniz Kor, Didem Yucel, Gulen Gul Mert, Neslihan Onenli Mungan
Published in Çukurova Üniversitesi tip fakültesi dergisi (01.08.2013)
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Published in Çukurova Üniversitesi tip fakültesi dergisi (01.08.2013)
Journal Article
Epilepsy and McArdle Disease in a Child
İncecik, Faruk, Hergüner, Özlem, Mert, Gülen, Besen, Şeyda, Kor, Deniz, Yılmaz, Berna, Mungan, Neslihan Önenli, Altunbaşak, Şakir
Published in Çukurova Üniversitesi tip fakültesi dergisi (01.01.2015)
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Published in Çukurova Üniversitesi tip fakültesi dergisi (01.01.2015)
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
Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose
Kör, Deniz, Yılmaz, Berna Şeker, Bulut, Fatma Derya, Ceylaner, Serdar, Mungan, Neslihan Önenli
Published in Journal of Pediatric Endocrinology & Metabolism (26.07.2017)
Published in Journal of Pediatric Endocrinology & Metabolism (26.07.2017)
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Journal Article
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey
Bulut, Fatma Derya, Kör, Deniz, Şeker-Yılmaz, Berna, Hergüner, Özlem, Ceylaner, Serdar, Özkınay, Ferda, Kılavuz, Sebile, Önenli-Mungan, Neslihan
Published in Metabolic brain disease (01.08.2018)
Published in Metabolic brain disease (01.08.2018)
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Journal Article
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin
Horoz, Ozden O., Mungan, Neslihan O., Yildizdas, Dincer, Hergüner, Özlem, Ceylaner, Serdar, Kör, Deniz, Waterham, Hans, Coskun, Turgay
Published in Journal of Pediatric Endocrinology and Metabolism (01.02.2016)
Published in Journal of Pediatric Endocrinology and Metabolism (01.02.2016)
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Journal Article
Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone
Önenli Mungan, Neslihan, Yıldızdaş, Dinçer, Kör, Deniz, Horoz, Özden Özgür, İncecik, Faruk, Öktem, Murat, Sander, Johannes
Published in Metabolic brain disease (01.10.2016)
Published in Metabolic brain disease (01.10.2016)
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Journal Article
Prevalence and correlates of restless legs syndrome in adolescents
YILMAZ, KUTLUHAN, KILINCASLAN, AYSE, AYDIN, NERIMAN, KOR, DENIZ
Published in Developmental medicine and child neurology (01.01.2011)
Published in Developmental medicine and child neurology (01.01.2011)
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Journal Article
Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene
İpek, Rojan, Çavdartepe, Büşra Eser, Kor, Deniz, Okuyaz, Çetin
Published in Metabolic brain disease (01.12.2022)
Published in Metabolic brain disease (01.12.2022)
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Journal Article
Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations
Kör, Deniz, Şeker-Yılmaz, Berna, Bulut, Fatma Derya, Kılavuz, Sebile, Öktem, Murat, Ceylaner, Serdar, Yıldızdaş, Dinçer, Önenli-Mungan, Neslihan
Published in Turkish journal of pediatrics (2019)
Published in Turkish journal of pediatrics (2019)
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Journal Article