Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity von Pinto, Alex, Ahring, Kirsten, Almeida, Manuela Ferreira, Ashmore, Catherine, Bélanger-Quintana, Amaya, Burlina, Alberto, Coşkun, Turgay, Daly, Anne, van Dam, Esther, Dursun, Ali, Evans, Sharon, Feillet, François, Giżewska, Maria, Gökmen-Özel, Hulya, Hickson, Mary, Hoekstra, Yteke, Ilgaz, Fatma, Jackson, Richard, Leśniak, Alicja, Loro, Christian, Malicka, Katarzyna, Patalan, Michał, Rocha, Júlio César, Sivri, Serap, Rodenburg, Iris, van Spronsen, Francjan, Strączek, Kamilla, Tokatli, Ayşegül, MacDonald, Anita

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Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy von Çıkı, Kısmet, Yıldız, Yılmaz, Kahraman, Ayça Burcu, Özgül, R. Köksal, Coşkun, Turgay, Dursun, Ali, Tokatlı, Ayşegül, Sivri, Serap

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The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene von Gempel, Klaus, Topaloglu, Haluk, Talim, Beril, Schneiderat, Peter, Schoser, Benedikt G. H., Hans, Volkmar H., Pálmafy, Beatrix, Kale, Gulsev, Tokatli, Aysegul, Quinzii, Catarina, Hirano, Michio, Naini, Ali, DiMauro, Salvatore, Prokisch, Holger, Lochmüller, Hanns, Horvath, Rita

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Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department von Yıldız, Yılmaz, Akcan Yıldız, Leman, Dursun, Ali, Tokatlı, Ayşegül, Coşkun, Turgay, Tekşam, Özlem, Sivri, Hatice Serap

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Comment on the “NASPGHAN Position Paper on the Diagnosis and Management of Pediatric Acute Liver Failure” von Yildiz, Yilmaz, Tokatli, Ayşegül

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DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant von Çıkı, Kısmet, Yıldız, Yılmaz, Yücel Yılmaz, Didem, Pektaş, Emine, Tokatlı, Ayşegül, Özgül, R. Köksal, Sivri, H. Serap, Dursun, Ali

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Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey von Ersak, Ayşe Şenol, Çak, Halime Tuna, Yıldız, Yılmaz, Çavdar, Merve Kaşıkcı, Tunç, Sıla, Özer, Nagihan, Zeltner, Nina A., Huemer, Martina, Tokatlı, Ayşegül, Haliloğlu, Göknur

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Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency von Yıldız, Yılmaz, Ardıçlı, Didem, Göçmen, Rahşan, Yalnızoğlu, Dilek, Topçu, Meral, Coşkun, Turgay, Tokatlı, Ayşegül, Haliloğlu, Göknur

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Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening von Karaca, Mehmet, Özgül, Rıza Köksal, Ünal, Özlem, Yücel-Yılmaz, Didem, Kılıç, Mustafa, Hişmi, Burcu, Tokatlı, Ayşegül, Coşkun, Turgay, Dursun, Ali, Sivri, Hatice Serap

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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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Coexistence of cystic fibrosis with other genetic disorders: A case series von Nayir Buyuksahin, Halime, Emiralioglu, Nagehan, Ademhan Tural, Dilber, Ozsezen, Beste, Sunman, Birce, Guzelkas, Ismail, Alboğa, Didem, Akgül Erdal, Meltem, Yalçın, Ebru, Dogru, Deniz, Tokatlı, Ayşegül, Ozcelik, Ugur, Sivri, Serap, Kiper, Nural

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

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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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Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance von Güzel-Ozantürk, Ayşegül, Özgül, Rıza Köksal, Ünal, Özlem, Hişmi, Burcu, Aydın, Halil İbrahim, Sivri, Serap, Tokatlı, Ayşegül, Coşkun, Turgay, Aksöz, Erol, Dursun, Ali

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Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations von Dündar, Halil, Özgül, Rıza Köksal, Güzel-Ozantürk, Ayşegül, Dursun, Ali, Sivri, Serap, Aliefendioğlu, Didem, Coşkun, Turgay, Tokatlı, Ayşegül

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

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

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Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four von Ünal, Özlem, Gökmen-Özel, Hülya, Coskun, Turgay, Özgül, R Köksal, Yücel, Didem, Hismi, Burcu, Tokatli, Aysegül, Dursun, Ali, Sivri, H Serap

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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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Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients von Gao, Hong-Zhi, Kobayashi, Keiko, Tabata, Ayako, Tsuge, Hideaki, Iijima, Mikio, Yasuda, Tomotsugu, Kalkanoglu, H. Serap, Dursun, Ali, Tokatli, Aysegul, Coskun, Turgay, Trefz, Friedrich K., Skladal, Daniela, Mandel, Hanna, Seidel, Joerg, Kodama, Soichi, Shirane, Seiko, Ichida, Takafumi, Makino, Shigeru, Yoshino, Makoto, Kang, Jong-Hon, Mizuguchi, Masashi, Barshop, Bruce A., Fuchinoue, Shohei, Seneca, Sara, Zeesman, Susan, Knerr, Ina, Rodés, Margarita, Wasant, Pornswan, Yoshida, Ichiro, De Meirleir, Linda, Abdul Jalil, Md, Begum, Laila, Horiuchi, Masahisa, Katunuma, Nobuhiko, Nakagawa, Shiro, Saheki, Takeyori

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