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

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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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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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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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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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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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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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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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Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape? 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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Cobalamin C defect: a patient of late-onset type with homozygous p.R132 mutation von Kılıç, Mustafa, Özgül, Rıza Köksal, Dursun, Ali, Tokatlı, Ayşegül, Kalkanoğlu-Sivri, Hatice Serap, Anlar, Banu, Fowler, Brian, Coşkun, Turgay

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

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Comment on: “Multiple acyl‑CoA dehydrogenase deficiency in elderly carriers” von Yildiz, Yilmaz, Tokatli, Aysegul

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Assessment of tetrahydrobiopterin responsiveness in Turkish hyperphenylalaninemic patients von Yildirim, Sükran, Tokatli, Ayşegül, Yilmaz, Engin, Coşkun, Turgay

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COVID-19-related anxiety in phenylketonuria patients von Akar, Halil Tuna, Karaboncuk, Yamac, ciki, Kismet, Kahraman, Ayca Burcu, Erdal, Izzet, Coskun, Turgay, Tokatli, Aysegul, Dursun, Ali, Yildiz, Yilmaz, Sivri, H. 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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Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient von Tokatli, Ayşegül, Kalkanoğlu-Sivri, H Serap, Yüce, Aysel, Coşkun, Turgay

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