Early diagnostic clues of mucolipidosis type II: Significance of radiological findings
Burgac, Ezgi, Kaplan, İrem, Köseci, Burcu, Kara, Esra, Kor, Deniz, Bulut, Fatma Derya, Atmış, Anıl, Pişkin, Ferhatcan, Tuğ Bozdoğan, Sevcan, Urel Demir, Gizem, İncecik, Faruk, Önenli Mungan, Neslihan
Published in American journal of medical genetics. Part A (01.06.2024)
Published in American journal of medical genetics. Part A (01.06.2024)
Get full text
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)
Get full text
Journal Article
Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience
Kilavuz, Sebile, Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Basaran, Sibel, Sarpel, Tunay, Mungan, Neslihan Onenli
Published in The journal of pediatric research (01.03.2018)
Published in The journal of pediatric research (01.03.2018)
Get full text
Journal Article
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)
Get full text
Journal Article
A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome
Bulut, Fatma Derya, Kor, Deniz, Yilmaz, Berna Seker, Yilmaz, Mustafa, Altintas, Derya Ufuk, Ceylaner, Serdar, Kilavuz, Sebile, Mungan, Neslihan Onenli
Published in The journal of pediatric research (01.03.2018)
Published in The journal of pediatric research (01.03.2018)
Get full text
Journal Article
A 17-Year-Old Girl with Chronic Intermittent Abdominal Pain
Neslihan Önenli Mungan, Berna Seker Yilmaz, Süleyman Nazoglu, Dincer Yildizdas, Özlem Hergüner, Mehmet Turgut, Murat Öktem
Published in Pediatric annals (01.04.2015)
Published in Pediatric annals (01.04.2015)
Get full text
Journal Article
Perspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey
Bulut, Fatma Derya, Seydaoğlu, Gülşah, Kor, Deniz, Kılavuz, Sebile, Boz, Aslı, Önenli Mungan, Neslihan
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2023)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.10.2023)
Get full text
Journal Article
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism
Gürbüz, Fatih, Kotan, L Damla, Mengen, Eda, Şıklar, Zeynep, Berberoğlu, Merih, Dökmetaş, Sebila, Kılıçlı, Mehmet Fatih, Güven, Ayla, Kirel, Birgül, Saka, Nurçin, Poyrazoğlu, Şükran, Cesur, Yaşar, Doğan, Murat, Özen, Samim, Özbek, Mehmet Nuri, Demirbilek, Hüseyin, Kekil, M Burcu, Temiz, Fatih, Önenli Mungan, Neslihan, Yüksel, Bilgin, Topaloğlu, Ali Kemal
Published in Journal of clinical research in pediatric endocrinology (01.09.2012)
Published in Journal of clinical research in pediatric endocrinology (01.09.2012)
Get full text
Journal Article
Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report
Kara, Esra, Kor, Deniz, Bulut, Fatma Derya, Hergüner, Özlem, Ceylaner, Serdar, Köşeci, Burcu, Burgaç, Ezgi, Mungan, Neslihan Önenli
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2021)
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2021)
Get full text
Journal Article
Recommendations on phenylketonuria in Turkey
Coşkun, Turgay, Çoker, Mahmut, Mungan, Neslihan Önenli, Özel, Hülya Gökmen, Sivri, H Serap
Published in The Turkish journal of pediatrics (2022)
Published in The Turkish journal of pediatrics (2022)
Get full text
Journal Article
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS
Kılavuz, Sebile, Bulut, Derya, Kor, Deniz, Şeker-Yılmaz, Berna, Özcan, Neslihan, Incecik, Faruk, Onan, Bilen, Ceylaner, Gülay, Önenli-Mungan, Neslihan
Published in Neuropediatrics (01.10.2021)
Published in Neuropediatrics (01.10.2021)
Get more information
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)
Get full text
Journal Article
Diagnostic value of plasma lysosphingolipids levels in a Niemann–Pick disease type C patient with transient neonatal cholestasis
Bulut, Fatma Derya, Bozbulut, Neslihan Ekşi, Özalp, Özge, Dalgiç, Buket, Mungan, Neslihan Önenli, Koç Uçar, Habibe, Biberoğlu, Gürsel
Published in Journal of Pediatric Endocrinology & Metabolism (25.05.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (25.05.2022)
Get full text
Journal Article
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis
Bulut, Fatma Derya, Kor, Deniz, Kılavuz, Sebile, Şeker Yılmaz, Berna, Kaplan, İrem, Ekinci, Faruk, Burgaç, Ezgi, Varol, İlknur, Köşeci, Burcu, Tuğ Bozdoğan, Sevcan, Kara, Esra, Demir, Fadli, Deniz, Ali, Temiz, Fatih, Önenli Mungan, Neslihan
Published in European journal of medical genetics (01.06.2023)
Published in European journal of medical genetics (01.06.2023)
Get full text
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)
Get full text
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)
Get full text
Journal Article