Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI von Bulut, Elif, Pektas, Emine, Sivri, Hatice S, Bilginer, Burcak, Umaroglu, Mumtaz M, Ozgen, Burce

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Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management von Yıldız, Yılmaz, Sivri, Hatice Serap

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Clinical characteristics and journey to diagnosis in patients with mucopolysaccharidosis type VII von Sivri, Hatice Serap, Erdöl, Şahin

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Inborn errors of metabolism in the differential diagnosis of fatty liver disease von Yildiz, Yilmaz, Sivri, Hatice Serap

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Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label... von Muntau, Ania C, Burlina, Alberto, Eyskens, François, Freisinger, Peter, Leuzzi, Vincenzo, Sivri, Hatice Serap, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelia S, Lane, Paul, Alvarez, Ignacio, Rutsch, Frank

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Genotypic‐phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey von Kılıç, Mustafa, Dursun, Ali, Coşkun, Turgay, Tokatlı, Ayşegül, Özgül, Rıza K., Yücel‐Yılmaz, Didem, Karaca, Mehmet, Doğru, Deniz, Alehan, Dursun, Kadayıfçılar, Sibel, Genç, Aydan, Turan‐Dizdar, Handan, Gönüldaş, Burhanettin, Savcı, Sema, Sağlam, Melda, Aksoy, Cemalettin, Arslan, Umut, Sivri, Hatice‐Serap

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Psychiatric symptoms and health-related quality of life in children with epilepsy and their mothers von Bilgiç, Ayhan, Işık, Ümit, Sivri Çolak, Rukiye, Derin, Hatice, Çaksen, Hüseyin

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Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency von Yıldız, Yılmaz, Talim, Beril, Haliloglu, Goknur, Topaloglu, Haluk, Akçören, Zuhal, Dursun, Ali, Sivri, Hatice Serap, Coşkun, Turgay, Tokatlı, Ayşegül

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

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Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective von Akgun, Abdurrahman, Gokcay, Gulden, Mungan, Neslihan Onenli, Sivri, Hatice Serap, Tezer, Hasan, Zeybek, Cigdem Aktuglu, Ezgu, Fatih

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Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy von Yıldız, Yılmaz, Olsen, Rikke Katrine Jentoft, Sivri, Hatice Serap, Akçören, Zuhal, Nygaard, Helle Highland, Tokatlı, Ayşegül

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Retrospective Evaluation of Hepatitis C Awareness in Turkey Through Two Decades von Balaban, Hatice Yasemin, Dag, Osman, Alp, Alparslan, Tseveldorj, Nomingerel, Vahabov, Cavansir, Goktas, Mehmet Akif, Purnak, Tugrul, Hascelik, Gulsen, Demir, Hulya, Sivri, Bulent, Simsek, Halis

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

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Hearing Loss in Biotinidase Deficiency: Genotype-Phenotype Correlation von Sivri, Hatice Serap Kalkanoğlu, MD, Genç, Gülsüm Aydan, PhD, Tokatlı, Ayşegül, MD, Dursun, Ali, MD, PhD, Coşkun, Turgay, MD, Aydın, Halil İbrahim, MD, Sennaroğlu, Levent, MD, Belgin, Erol, PhD, Jensen, Kevin, BS, Wolf, Barry, MD, PhD

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Erratum to ‘Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency’ [Pediatric Neurology 99 (2019) 69–75] von Yıldız, Yılmaz, Talim, Beril, Haliloglu, Goknur, Topaloglu, Haluk, Akçören, Zuhal, Dursun, Ali, Sivri, Hatice Serap, Coşkun, Turgay, Tokatlı, Ayşegül

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Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe von Yıldız, Yılmaz, Arslan, Mutluay, Çelik, Gökalp, Kasapkara, Çiğdem Seher, Ceylaner, Serdar, Dursun, Ali, Sivri, Hatice Serap, Coşkun, Turgay, Tokatlı, Ayşegül

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Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant von Gürbüz, Berrak Bilginer, Yilmaz, Didem Yücel, Özgül, Riza Köksal, Koşukcu, Can, Dursun, Ali, Sivri, Hatice Serap, Coşkun, Turgay, Tokatli, Ayşegül

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

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

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Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients von Gurbuz, Berrak Bilginer, Aypar, Ebru, Alehan, Dursun, Tokatli, Aysegul, Coskun, Turgay, Dursun, Ali, Sivri, H. Serap

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