Effect of Blood Phenylalanine Levels on Oxidative Stress in Classical Phenylketonuric Patients von Kumru, Burcu, Kaplan, Davut Sinan, Oztürk Hismi, Burcu, Celik, Hakim

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A surprising cause of proteinuria: Answers von Demir, Belde Kasap, Kanık, Ali, Köse, Melis, Hişmi, Burcu Öztürk, Baran, Maşallah

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A surprising cause of proteinuria: Questions von Demir, Belde Kasap, Kanık, Ali, Köse, Melis, Hişmi, Burcu Öztürk, Baran, Maşallah

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Hematopoietic stem cell transplantation in children with mucopolysaccharidosis IVA: single center experience von Yalcin, Koray, Uygun, Vedat, Ozturk Hismi, Burcu, Celen, Suna, Ozturkmen, Seda, Zhumatayev, Suleimen, Daloglu, Hayriye, Karasu, Gülsün, Yesilipek, Akif

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Neuropsychological attributes of urea cycle disorders: A systematic review of the literature von Waisbren, Susan E., Stefanatos, Arianna K., Kok, Teresa M. Y., Ozturk‐Hismi, Burcu

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Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia von Tekin, Mustafa, Hişmi, Burcu Öztürk, Fitoz, Suat, Özdağ, Hilal, Cengiz, Filiz Başak, Sırmacı, Aslı, Aslan, İdil, İnceoğlu, Bora, Yüksel-Konuk, E. Berrin, Yılmaz, Seda Taşır, Yasun, Öztan, Akar, Nejat

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Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa von Kumru Akin, Burcu, Ozturk Hismi, Burcu, Daly, Anne

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Molecular Aspects of Distal Kidney Tubular Acidosis in Children, Its Long-Term Outcome, and Relationship with Hyperammonemia von Güven, Serçin, Gökçe, İbrahim, Alavanda, Ceren, Öztürk Hişmi, Burcu, Çiçek, Neslihan, Bodur Demirci, Ece, Sak, Mehtap, Yıldız, Nurdan, Ata, Pınar, Alpay, Harika

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Investigation of L-Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease von Kumru, Burcu, Oztürk Hismi, Burcu

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Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement von Kısa, Pelin Teke, Yildirim, Gonca Kilic, Hismi, Burcu Ozturk, Dorum, Sevil, Kusbeci, Ozge Yilmaz, Topak, Ali, Baydan, Figen, Celik, Fatma Nazlı Durmaz, Gorukmez, Orhan, Gulten, Zumrut Arslan, Ekici, Arzu, Ozkan, Serhat, Yaman, Aylin, Arslan, Nur

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Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals von Zubarioglu, Tanyel, Kıykım, Ertuğrul, Köse, Engin, Eminoğlu, Fatma Tuba, Teke Kısa, Pelin, Balcı, Mehmet Cihan, Özer, Işıl, İnci, Aslı, Çilesiz, Kübra, Canda, Ebru, Yazıcı, Havva, Öztürk-Hişmi, Burcu, Bulut, Fatma Derya, Dorum, Sevil, Akgun, Abdurrahman, Yalçın-Çakmaklı, Gül, Kılıç-Yıldırım, Gonca, Soyuçen, Erdoğan, Akçalı, Aylin, Güneş, Dilek, Durmuş, Aslı, Gündüz, Ayşegül, Kasapkara, Çiğdem Seher, Göksoy, Emine, Akar, Halil Tuna, Ersoy, Melike, Erdöl, Şahin, Yıldız, Yılmaz, Hanağası, Haşmet Ayhan, Arslan, Nur, Aktuğlu-Zeybek, Çiğdem

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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes von Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, Blau, Nenad

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Inflammatory rheumatic diseases in patients with ochronotic arthropathy von Yuce Inel, Tuba, Kisa, Pelin Teke, Balci, Ali, Uslu, Sadettin, Arslan, Zumrut, Hismi, Burcu Ozturk, Ucar, Ulku, Arslan, Nur, Onen, Fatos, Sari, Ismail

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Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease von Kisa, Pelin Teke, Hismi, Burcu Ozturk, Kocabey, Mehmet, Gulten, Zumrut Arslan, Huddam, Bulent, Ekinci, Selim, Bozkaya, Evrim, Akar, Harun, Pekuz, Ozge K. Karalar, Aydogan, Ayca, Arslan, Nur

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Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression von Hu, Liyan, Diez-Fernandez, Carmen, Rüfenacht, Véronique, Hismi, Burcu Öztürk, Ünal, Özlem, Soyucen, Erdogan, Çoker, Mahmut, Bayraktar, Bilge Tanyeri, Gunduz, Mehmet, Kiykim, Ertugrul, Olgac, Asburce, Pérez-Tur, Jordi, Rubio, Vicente, Häberle, Johannes

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Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening von Karaca, Mehmet, Özgül, Rıza Köksal, Ünal, Özlem, Yücel-Yılmaz, Didem, Kılıç, Mustafa, Hişmi, Burcu, Tokatlı, Ayşegül, Coşkun, Turgay, Dursun, Ali, Sivri, Hatice Serap

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Renal–Hepatic–Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype von Cagan Appak, Yeliz, Baran, Masallah, Ozturk Hismi, Burcu, Ozyilmaz, Berk, Vardi, Kader, Ozer Kaya, Ozge, Aksoy, Betul, Kasap Demir, Belde

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Severe vitamin B12 deficiency with pancytopenia, hepatosplenomegaly and leukoerythroblastosis in two Syrian refugee infants: a challenge to differentiate from acute leukaemia von Belen, Burcu, Hismi, Burcu Ozturk, Kocak, Ulker

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A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss von Sırmacı, Aslı, Erbek, Seyra, Price, Justin, Huang, Mingqian, Duman, Duygu, Cengiz, F. Başak, Bademci, Güney, Tokgöz-Yılmaz, Suna, Hişmi, Burcu, Özdağ, Hilal, Öztürk, Banu, Kulaksızoğlu, Sevsen, Yıldırım, Erkan, Kokotas, Haris, Grigoriadou, Maria, Petersen, Michael B., Shahin, Hashem, Kanaan, Moien, King, Mary-Claire, Chen, Zheng-Yi, Blanton, Susan H., Liu, Xue Z., Zuchner, Stephan, Akar, Nejat, Tekin, Mustafa

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Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance von Güzel-Ozantürk, Ayşegül, Özgül, Rıza Köksal, Ünal, Özlem, Hişmi, Burcu, Aydın, Halil İbrahim, Sivri, Serap, Tokatlı, Ayşegül, Coşkun, Turgay, Aksöz, Erol, Dursun, Ali

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