TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction von 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

Volltext

Can untreated PKU patients escape from intellectual disability? A systematic review von 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

Volltext

Liver involvement in neuroblastoma amplified sequence gene deficiency is not limited to acute injury: Fibrosis silently continues von Nazmi, Farinaz, Ozdogan, Elif, Mungan, Neslihan O., Arikan, Cigdem

Volltext

Early diagnostic clues of mucolipidosis type II: Significance of radiological findings von 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

Volltext

Actions speak louder than words: Home visits and its effect on dietary adherence in patients with phenylketonuria von Bulut, Fatma Derya, Kor, Deniz, Kilavuz, Sebile, Cicek, Ebru, Koseci, Burcu, Kara, Esra, Burgac, Ezgi, Kaplan, İrem, Onenli Mungan, Neslihan

Volltext

Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series von Kilavuz, Sebile, Basaran, Sibel, Kor, Deniz, Bulut, Fatma Derya, Erdem, Sevcan, Balli, Huseyin Tugsan, Dagkiran, Muhammed, Bisgin, Atil, Mungan, Halise Neslihan Onenli

Volltext

D-bifunctional protein deficiency: A case report of a Turkish child von Incecik, Faruk, Mungan, Neslihan

Volltext

Perspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey von Bulut, Fatma Derya, Seydaoğlu, Gülşah, Kor, Deniz, Kılavuz, Sebile, Boz, Aslı, Önenli Mungan, Neslihan

Volltext

Evaluation of bone health in patients with mucopolysaccharidosis von Kor, Deniz, Bulut, Fatma Derya, Kılavuz, Sebile, Şeker Yılmaz, Berna, Köşeci, Burcu, Kara, Esra, Kaya, Ömer, Başaran, Sibel, Seydaoğlu, Gülşah, Önenli Mungan, Neslihan

Volltext

Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome von 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

Volltext

Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders von Yilmaz, Berna Seker, Ceylaner, Serdar, Mungan, Neslihan Onenli

Volltext

Dysarthria, ataxia, and dystonia associated with COX20 (FAM36A) gene mutation: A case report of a Turkish child von Ozcanyuz, Duygu, Incecik, Faruk, Herguner, Ozlem, Mungan, Neslihan, Bozdogan, Sevcan

Volltext

Clinical features and molecular genetics of autosomal recessive ataxia in the Turkish population von Incecik, Faruk, Herguner, Ozlem, Mungan, Neslihan

Volltext

Recommendations on phenylketonuria in Turkey von Coşkun, Turgay, Çoker, Mahmut, Mungan, Neslihan Önenli, Özel, Hülya Gökmen, Sivri, H Serap

Volltext

Spinocerebellar ataxia-21 in a Turkish child von Incecik, Faruk, Herguner, Ozlem, Willems, Patrick, Mungan, Neslihan

Volltext

Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective von Arslan, Nur, Coker, Mahmut, Gokcay, Gulden Fatma, Kiykim, Ertugrul, Onenli Mungan, Halise Neslihan, Ezgu, Fatih

Volltext

Pediatric Cardiomyopathies from the Landscape of Inherited Metabolic Disorders in Southeastern Turkey von Demir, Fadli, Topal, Ezgi, Bulut, Fatma Derya, Erdem, Sevcan, Kor, Deniz, Atmış, Anıl, Tug Bozdogan, Sevcan, Bisgin, Atıl, Onenli Mungan, Neslihan, Ozbarlas, Nazan

Volltext

Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis von 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

Volltext

Coexistence of molybdenum cofactor deficiency type A and hypertrophic pyloric stenosis, a new case von Satar, Mehmet, Kurtoğlu, Ahmet İbrahim, Yıldızdaş, Hacer Y, Önenli Mungan, Neslihan, Özlü, Ferda, Bişgin, Atıl

Volltext

A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase von Kılıç, Mustafa, Kasapkara, Çiğdem Seher, Kılavuz, Sebile, Mungan, Neslihan Önenli, Biberoğlu, Gürsel

Volltext