Molecular genetics of maple syrup urine disease in the Turkish population by Kerstin Gorzelany, Ali Dursun, Turgay Coşkun, Serap H Kalkanoğlu-Sivri, Gülden Fatma Gökçay, Mübeccel Demirkol, Oliver Feyen, Udo Wendel

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Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn and selective screening by Gökçe Akan, Mehmet Cihan Balcı, Gülten Tuncel, Meryem Karaca, Hasan Hüseyin Kazan, Ahmet Çağlar Özketen, Özge Özgen, Gülden Fatma Gökçay, Fatmahan Atalar

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An Oxford Nanopore Technologies–Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort by Gülten Tuncel, Mehmet Cihan Balcı, Gökçe Akan, Hasan Hüseyin Kazan, Özge Özgen, Ahmet Çağlar Özketen, Meryem Karaca, Asuman Gedikbaşı, Fatmahan Atalar, Gülden Fatma Gökçay

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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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