Oral health status of children and young adults with maple syrup urine disease in Turkey
Ballikaya, Elif, Yildiz, Yılmaz, Koç, Nagihan, Tokatli, Ayşegül, Uzamis Tekcicek, Meryem, Sivri, Hatice Serap
Published in BMC oral health (06.01.2021)
Published in BMC oral health (06.01.2021)
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Journal Article
Cu(I)-N-heterocyclic carbene complexes bearing a naphthyl substituent: synthesis, characterization, and antimicrobial activities
Tokatli, Ayşegül, Demir, Büşra, Kiliç, Nurgül, Kurt-Kizildoğan, Aslihan, Otur, Çiğdem, Kilinçarslan, Rafet, Karakaş, Hayriye, Özdemir, Namık, Bülbül, Hakan
Published in Journal of coordination chemistry (03.08.2023)
Published in Journal of coordination chemistry (03.08.2023)
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Journal Article
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
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
Published in Nutrients (01.07.2024)
Published in Nutrients (01.07.2024)
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Journal Article
Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs
Unal, Ozlem, Oztürk-Hişmi, Burcu, Coşkun, Turgay, Tokatlı, Ayşegül, Dursun, Ali, Sivri, Hatice Serap
Published in Turkish journal of pediatrics (01.07.2012)
Published in Turkish journal of pediatrics (01.07.2012)
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Journal Article
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations
Özgül, Rıza Köksal, Güzel-Ozantürk, Ayşegül, Dündar, Halil, Yücel-Yılmaz, Didem, Coşkun, Turgay, Sivri, Serap, Aydoǧdu, Sultan, Tokatlı, Ayşegül, Dursun, Ali
Published in Journal of human genetics (01.10.2013)
Published in Journal of human genetics (01.10.2013)
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Journal Article
A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome
Kiliç, Mustafa, Sivri, Hatice Serap, Dursun, Ali, Tokatli, Ayşegül, De Meirleir, Linda, Seneca, Sara, Akçören, Zuhal, Yiğit, Sule, Topaloğlu, Haluk, Coşkun, Turgay
Published in Turkish journal of pediatrics (01.01.2011)
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Published in Turkish journal of pediatrics (01.01.2011)
Journal Article
COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity
Kahraman, Ayca Burcu, Yıldız, Yılmaz, Çıkı, Kısmet, Erdal, Izzet, Akar, Halil Tuna, Dursun, Ali, Tokatlı, Ayşegül, Sivri, Serap
Published in Molecular genetics and metabolism (01.06.2023)
Published in Molecular genetics and metabolism (01.06.2023)
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Journal Article
Invisible burden of COVID-19: enzyme replacement therapy disruptions
Kahraman, Ayça Burcu, Yıldız, Yılmaz, Çıkı, Kısmet, Akar, Halil Tuna, Erdal, İzzet, Dursun, Ali, Tokatlı, Ayşegül, Sivri, Hatice Serap
Published in Journal of Pediatric Endocrinology & Metabolism (26.05.2021)
Published in Journal of Pediatric Endocrinology & Metabolism (26.05.2021)
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Journal Article
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy
Çıkı, Kısmet, Yıldız, Yılmaz, Kahraman, Ayça Burcu, Özgül, R. Köksal, Coşkun, Turgay, Dursun, Ali, Tokatlı, Ayşegül, Sivri, Serap
Published in Molecular genetics and metabolism (01.11.2023)
Published in Molecular genetics and metabolism (01.11.2023)
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Journal Article
Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department
Yıldız, Yılmaz, Akcan Yıldız, Leman, Dursun, Ali, Tokatlı, Ayşegül, Coşkun, Turgay, Tekşam, Özlem, Sivri, Hatice Serap
Published in European journal of pediatrics (01.07.2020)
Published in European journal of pediatrics (01.07.2020)
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Journal Article
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency
Yıldız, Yılmaz, Talim, Beril, Haliloglu, Goknur, Topaloglu, Haluk, Akçören, Zuhal, Dursun, Ali, Sivri, Hatice Serap, Coşkun, Turgay, Tokatlı, Ayşegül
Published in Pediatric neurology (01.10.2019)
Published in Pediatric neurology (01.10.2019)
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Journal Article
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant
Çıkı, Kısmet, Yıldız, Yılmaz, Yücel Yılmaz, Didem, Pektaş, Emine, Tokatlı, Ayşegül, Özgül, R. Köksal, Sivri, H. Serap, Dursun, Ali
Published in Metabolic brain disease (01.08.2021)
Published in Metabolic brain disease (01.08.2021)
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Journal Article
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy
Yıldız, Yılmaz, Olsen, Rikke Katrine Jentoft, Sivri, Hatice Serap, Akçören, Zuhal, Nygaard, Helle Highland, Tokatlı, Ayşegül
Published in Neuromuscular disorders : NMD (01.09.2018)
Published in Neuromuscular disorders : NMD (01.09.2018)
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Journal Article
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity
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
Published in Nutrients (31.08.2024)
Published in Nutrients (31.08.2024)
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Journal Article
Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency
Yıldız, Yılmaz, Ardıçlı, Didem, Göçmen, Rahşan, Yalnızoğlu, Dilek, Topçu, Meral, Coşkun, Turgay, Tokatlı, Ayşegül, Haliloğlu, Göknur
Published in European journal of paediatric neurology (01.03.2024)
Published in European journal of paediatric neurology (01.03.2024)
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Journal Article
Validity and reliability of the MetabQoL 1.0 and assessment of neuropsychiatric burden in organic acidemias: Reflections from Turkey
Ersak, Ayşe Şenol, Çak, Halime Tuna, Yıldız, Yılmaz, Çavdar, Merve Kaşıkcı, Tunç, Sıla, Özer, Nagihan, Zeltner, Nina A., Huemer, Martina, Tokatlı, Ayşegül, Haliloğlu, Göknur
Published in Molecular genetics and metabolism (01.01.2024)
Published in Molecular genetics and metabolism (01.01.2024)
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