Assessment of tetrahydrobiopterin responsiveness in Turkish hyperphenylalaninemic patients by Sükran Yildirim, Ayşegül Tokatli, Engin Yilmaz, Turgay Coşkun

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Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient by Ayşegül Tokatli, H Serap Kalkanoğlu-Sivri, Aysel Yüce, Turgay Coşkun

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Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder by Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri

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

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Oral health status of children and young adults with maple syrup urine disease in Turkey by Elif Ballikaya, Yılmaz Yildiz, Nagihan Koç, Ayşegül Tokatli, Meryem Uzamis Tekcicek, Hatice Serap Sivri

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Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients by Berrak Bilginer Gürbüz, Ebru Aypar, Dursun Alehan, Ayşegül Tokatlı, Turgay Coşkun, Ali Dursun, H. Serap Sivri

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Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency by Doğuş Vurallı, Yılmaz Yıldız, Alev Ozon, Ali Dursun, Nazlı Gönç, Ayşegül Tokatlı, H. Serap Sivri, Ayfer Alikaşifoğlu

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Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy by Berrak Bilginer Gürbüz, Kısmet Çıkı, H. Hakan Aykan, Tevfik Karagöz, Serap Sivri, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun

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Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation by Mustafa Kılıç, Rıza Köksal Özgül, Ali Dursun, Ayşegül Tokatlı, Hatice Serap Kalkanoğlu-Sivri, Banu Anlar, Brian Fowler, Turgay Coşkun

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Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation by Özlem Ünal, R Köksal Özgül, Didem Yücel, Dilek Yalnızoğlu, Ayşegül Tokatlı, H Serap Sivri, Burcu Hişmi, Turgay Coşkun, Ali Dursun

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Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant by Berrak Bilginer Gürbüz, Didem Yücel Yılmaz, Rıza Köksal Özgül, Can Koşukcu, Ali Dursun, Hatice Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı

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Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four by Özlem Ünal, Hülya Gökmen-Özel, Turgay Coşkun, R Köksal Özgül, Didem Yücel, Burcu Hişmi, Ayşegül Tokatlı, Ali Dursun, H Serap Sivri

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A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome by Mustafa Kiliç, Haluk Topaloğlu, Sule Yiğit, Zuhal Akçören, Sara Seneca, Linda De Meirleir, Ayşegül Tokatli, Ali Dursun, Hatice Serap Sivri, Turgay Coşkun

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COVID-19-related anxiety in phenylketonuria patients by Halil Tuna Akar, Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, İzzet Erdal, Ayça Burcu Kahraman, Kısmet Çıkı, Yamaç Karaboncuk, H Serap Sivri

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Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients by Halil Tuna Akar, Yılmaz Yıldız, Gökhan Güvenkaya, Kısmet Çıkı, Ayşe Burcu Kahraman, İzzet Erdal, Turgay Coşkun, Ali Dursun, Hatice Serap Sivri, Ayşegül Tokatlı

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Cognitive and behavioral impairment in mild hyperphenylalaninemia by S Gülin Evinç, Ferhunde Öktem, Turgay Coskun, Ayşegül Tokatlı, Ali Dursun, Berrak Bilginer-Gürbüz, Yamaç Karaboncuk, Yılmaz Yıldız, Dilşad Foto-Özdemir, Emine Pektaş, H Serap Sivri

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