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

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Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations von Sırmacı, Aslı, Duman, Duygu, Öztürkmen-Akay, Hatice, Erbek, Seyra, İncesulu, Armağan, Öztürk-Hişmi, Burcu, Arıcı, Z. Serap, Yüksel-Konuk, E. Berrin, Taşır-Yılmaz, Seda, Tokgöz-Yılmaz, Suna, Cengiz, Filiz Başak, Aslan, İdil, Yıldırım, Müzeyyen, Hasanefendioğlu-Bayrak, Aylin, Ayçiçek, Abdullah, Yılmaz, İsmail, Fitoz, Suat, Altın, Fazilet, Özdağ, Hilal, Tekin, Mustafa

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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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Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs von Unal, Ozlem, Oztürk-Hişmi, Burcu, Coşkun, Turgay, Tokatlı, Ayşegül, Dursun, Ali, Sivri, Hatice Serap

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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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Effects of GJB2 genotypes on the audiological phenotype: Variability is present for all genotypes von Hişmi, Burcu Öztürk, Yılmaz, Suna Tokgöz, İncesulu, Armağan, Tekin, Mustafa

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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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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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Mechanical ventilation in children von Kendirli, Tanil, Kavaz, Asli, Yalaki, Zahide, Oztürk Hişmi, Burcu, Derelli, Emel, Ince, Erdal

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Renal replacement therapies in pediatric intensive care patients: Experiences of one center in Turkey von KENDİRLI, TANIL, EKİM, MESİHA, ÖZÇAKAR, ZEYNEP BİRSİN, YÜKSEL, SELÇUK, ACAR, BANU, ÖZTÜRK-HIİŞMİ, BURCU, DERELLİ, EMEL, KAVAZ, ASLI, YALAKİ, ZAHİDE, YALÇINKAYA, FATOŞ

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