Oxford nanopore sequencing-based assay for BTD gene screening: Design, clinical validation, and variant frequency assessment in the Turkish population
Kazan, Hasan Hüseyin, Karaca, Meryem, Akan, Gökçe, Özgen, Özge, Tuncel, Gülten, Özketen, Ahmet Çağlar, Balcı, Mehmet Cihan, Körbeyli, Hüseyin Kutay, Atalar, Fatmahan, Gökçay, Gülden Fatma
Published in Gene (30.11.2024)
Published in Gene (30.11.2024)
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Journal Article
Molecular genetics of maple syrup urine disease in the Turkish population
Gorzelany, Kerstin, Dursun, Ali, Coşkun, Turgay, Kalkanoğlu-Sivri, Serap H, Gökçay, Gülden Fatma, Demirkol, Mübeccel, Feyen, Oliver, Wendel, Udo
Published in Turkish journal of pediatrics (01.03.2009)
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Published in Turkish journal of pediatrics (01.03.2009)
Journal Article
Experiences of mothers caring for children with rare diseases in Turkey
Bayraktar, Sema, Aydın, Ayfer, Karaca, Meryem, Balcı, Mehmet Cihan, Gökçay, Gülden Fatma, Göktepe, Neval
Published in Journal of genetic counseling (26.09.2024)
Published in Journal of genetic counseling (26.09.2024)
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Journal Article
Ketogenic Diet Interventions in Inborn Errors of Metabolism: A Review Article
Kök Şan, Cansu, Muslu, Mücahit, Gökçay, Gülden Fatma
Published in Clinical and experimental health sciences (Online) (01.03.2024)
Published in Clinical and experimental health sciences (Online) (01.03.2024)
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Journal Article
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature
Selamioğlu, Arzu, Karaca, Meryem, Balcı, Mehmet Cihan, Körbeyli, Hüseyin Kutay, Durmuş, Aslı, Yıldız, Edibe Pembegül, Karaman, Serap, Gökçay, Gülden Fatma
Published in Molecular syndromology (01.06.2023)
Published in Molecular syndromology (01.06.2023)
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Journal Article
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases
Gedikbasi, Asuman, Toksoy, Guven, Karaca, Meryem, Gulec, Cagri, Balci, Mehmet Cihan, Gunes, Dilek, Gunes, Seda, Aslanger, Ayca Dilruba, Unverengil, Gokcen, Karaman, Birsen, Basaran, Seher, Demirkol, Mubeccel, Gokcay, Gulden Fatma, Uyguner, Zehra Oya
Published in Frontiers in genetics (12.06.2023)
Published in Frontiers in genetics (12.06.2023)
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Journal Article
A different perspective into clinical symptoms in CPT I deficiency
Balci, Mehmet Cihan, Karaca, Meryem, Selamioglu, Arzu, Korbeyli, Huseyin Kutay, Durmus, Asli, Ak, Belkis, Kozanoglu, Tugba, Gokcay, Gulden Fatma
Published in Molecular genetics and metabolism reports (01.03.2024)
Published in Molecular genetics and metabolism reports (01.03.2024)
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Journal Article
Expert opinion on patient journey, diagnosis and clinical monitoring in acid sphingomyelinase deficiency in Turkey: a pediatric metabolic disease specialist's perspective
Arslan, Nur, Coker, Mahmut, Gokcay, Gulden Fatma, Kiykim, Ertugrul, Onenli Mungan, Halise Neslihan, Ezgu, Fatih
Published in Frontiers in pediatrics (26.06.2023)
Published in Frontiers in pediatrics (26.06.2023)
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Journal Article
Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature
Selamioğlu, Arzu, Karaca, Meryem, Balcı, Mehmet Cihan, Körbeyli, Hüseyin Kutay, Durmuş, Aslı, Yıldız, Edibe Pembegül, Karaman, Serap, Gökçay, Gülden Fatma
Published in Molecular syndromology (01.06.2023)
Published in Molecular syndromology (01.06.2023)
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Report
Evaluation of the risk factors for noncommunicable diseases in patients with inborn errors of amino acid metabolism receiving nutrition therapy
Balci, Mehmet Cihan, Karaca, Meryem, Yesil, Alihan, Selamioglu, Arzu, Korbeyli, Huseyin Kutay, Durmus, Asli, Ak, Belkis, Kozanoglu, Tugba, Hacioglu, Ilknur, Gokcay, Gulden Fatma
Published in Journal of Pediatric Endocrinology and Metabolism (15.12.2023)
Published in Journal of Pediatric Endocrinology and Metabolism (15.12.2023)
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Journal Article