TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction
Topaloglu, A Kemal, O'Rahilly, Stephen, Reimann, Frank, Guclu, Metin, Yalin, Ayse Serap, Kotan, L Damla, Porter, Keith M, Serin, Ayse, Mungan, Neslihan O, Cook, Joshua R, Ozbek, Mehmet N, Imamoglu, Sazi, Akalin, N Sema, Yuksel, Bilgin, Semple, Robert K
Published in Nature genetics (01.03.2009)
Published in Nature genetics (01.03.2009)
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Journal Article
Can untreated PKU patients escape from intellectual disability? A systematic review
van Vliet, Danique, van Wegberg, Annemiek M J, Ahring, Kirsten, Bik-Multanowski, Miroslaw, Blau, Nenad, Bulut, Fatma D, Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Federico, Antonio, Feillet, François, Gizewska, Maria, Gramer, Gwendolyn, Hertecant, Jozef L, Hollak, Carla E M, Jørgensen, Jens V, Karall, Daniela, Landau, Yuval, Leuzzi, Vincenzo, Mathisen, Per, Moseley, Kathryn, Mungan, Neslihan Ö, Nardecchia, Francesca, Õunap, Katrin, Powell, Kimberly K, Ramachandran, Radha, Rutsch, Frank, Setoodeh, Aria, Stojiljkovic, Maja, Trefz, Fritz K, Usurelu, Natalia, Wilson, Callum, van Karnebeek, Clara D, Hanley, William B, van Spronsen, Francjan J
Published in Orphanet journal of rare diseases (29.08.2018)
Published in Orphanet journal of rare diseases (29.08.2018)
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Journal Article
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)
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Journal Article
Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria
Bulut, Fatma Derya, Kor, Deniz, Kilavuz, Sebile, Cicek, Ebru, Koseci, Burcu, Kara, Esra, Burgac, Ezgi, Kaplan, İrem, Onenli Mungan, Neslihan
Published in Journal of paediatrics and child health (01.11.2023)
Published in Journal of paediatrics and child health (01.11.2023)
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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)
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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
Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome
Topaloglu, A. Kemal, Lomniczi, Alejandro, Kretzschmar, Doris, Dissen, Gregory A, Kotan, L. Damla, McArdle, Craig A, Koc, A. Filiz, Hamel, Ben C, Guclu, Metin, Papatya, Esra D, Eren, Erdal, Mengen, Eda, Gurbuz, Fatih, Cook, Mandy, Castellano, Juan M, Kekil, M. Burcu, Mungan, Neslihan O, Yuksel, Bilgin, Ojeda, Sergio R
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
Published in The journal of clinical endocrinology and metabolism (01.10.2014)
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Journal Article
D-bifunctional protein deficiency: A case report of a Turkish child
Incecik, Faruk, Mungan, Neslihan
Published in Annals of the Indian Academy of Neurology (01.01.2019)
Published in Annals of the Indian Academy of Neurology (01.01.2019)
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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)
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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)
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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)
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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)
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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)
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Journal Article
Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population
Incecik, Faruk, Herguner, Ozlem, Mungan, Neslihan
Published in Journal of pediatric neurosciences (01.04.2020)
Published in Journal of pediatric neurosciences (01.04.2020)
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Journal Article
Pediatric Cardiomyopathies from the Landscape of Inherited Metabolic Disorders in Southeastern Turkey
Demir, Fadli, Topal, Ezgi, Bulut, Fatma Derya, Erdem, Sevcan, Kor, Deniz, Atmış, Anıl, Tug Bozdogan, Sevcan, Bisgin, Atıl, Onenli Mungan, Neslihan, Ozbarlas, Nazan
Published in Majallah-ʼi bīmārīhā-yi kūdakān-i Īrān = Iranian journal of pediatrics (01.02.2024)
Published in Majallah-ʼi bīmārīhā-yi kūdakān-i Īrān = Iranian journal of pediatrics (01.02.2024)
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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)
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