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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Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria by Ayça Burcu Kahraman, Kısmet Çıkı, Begüm Poşul, Mustafa Güvercin, Yılmaz Yıldız, Ali Dursun, Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı

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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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A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics by Mehmet Cihan Balci, Deniz Kor, Yilmaz Yildiz, Meryem Karaca, Fatma Derya Bulut, Ayca Burcu Kahraman, Alihan Yesil, Ezgi Burgac, Kismet Ciki, Arzu Selamioglu, Burcu Koseci, Asli Durmus, Irem Kaplan, Esra Kara, Halise Neslihan Mungan, Serap Sivri, Gulden Fatma Gokcay, Aysegul Tokatli, Mubeccel Demirkol, Turgay Coskun, Imran Ozalp

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