Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI
Yavuz, Ozlem Ozkale, Ayaz, Ercan, Yildiz, Yilmaz, Karaosmanoglu, Ayca Akgoz, Bulut, Elif, Sivri, H. Serap Kalkanoglu, Oguz, Kader K
Published in Diagnostic and interventional radiology (Ankara, Turkey) (01.09.2022)
Published in Diagnostic and interventional radiology (Ankara, Turkey) (01.09.2022)
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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
Correction to: DNAJC12 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
Hyperinsulinism may be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
Vuralli, Dogus, Yildiz, Yilmaz, Ozon, Alev, Dursun, Ali, Gonc, Nazli, Tokatlı, Aysegul, Sivri, H Serap, Alikasifoglu, Ayfer
Published in Journal of clinical research in pediatric endocrinology (01.09.2022)
Published in Journal of clinical research in pediatric endocrinology (01.09.2022)
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Journal Article
Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway
Gönüldaş, Burhanettin, Yılmaz, Taner, Sivri, H. Serap, Güçer, K. Şafak, Kılınç, Kamer, Genç, G. Aydan, Kılıç, Mustafa, Coşkun, Turgay
Published in International journal of pediatric otorhinolaryngology (01.06.2014)
Published in International journal of pediatric otorhinolaryngology (01.06.2014)
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Journal Article
A non-interventional observational study to identify and validate clinical outcome assessments for adults with phenylketonuria for use in clinical trials
Burton, Barbara K., Skalicky, Anne, Baerwald, Christoph, Bilder, Deborah A., Harding, Cary O., Ilan, Aaron B., Jurecki, Elaina, Longo, Nicola, Madden, David T., Sivri, H. Serap, Wilcox, Gisela, Thomas, Janet, Delaney, Kathleen
Published in Molecular genetics and metabolism reports (01.12.2021)
Published in Molecular genetics and metabolism reports (01.12.2021)
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Journal Article
Cognitive and behavioral impairment in mild hyperphenylalaninemia
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
Published in Turkish journal of pediatrics (2018)
Published in Turkish journal of pediatrics (2018)
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Journal Article
Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation
Ünal, Özlem, Özgül, R Köksal, Yücel, Didem, Yalnızoğlu, Dilek, Tokatlı, Ayşegül, Sivri, H Serap, Hişmi, Burcu, Coşkun, Turgay, Dursun, Ali
Published in Turkish journal of pediatrics (01.07.2015)
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Published in Turkish journal of pediatrics (01.07.2015)
Journal Article
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency
Ostergaard, E., Moller, L. Birk, Kalkanoglu-Sivri, H. Serap, Dursun, A., Kibaek, M., Thelle, T., Christensen, E., Duno, M., Wibrand, F.
Published in Journal of inherited metabolic disease (01.12.2009)
Published in Journal of inherited metabolic disease (01.12.2009)
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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
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., Assmann, Birgit, Fung, Cheuk-Wing, Guder, Philipp, Hong, Stacey Tay Kiat, Karall, Daniela, Kato, Mitsuhiro, Kavecan, Ivana, Koht, Jeanette Aimee, Kuster, Alice, Lücke, Thomas, Manti, Filippo, Mir, Pablo, Mühlhausen, Chris, Önenli Mungan, Halise Neslihan, Palacios, Natalia Alexandra Julia, Ramos, Joaquín Alejandro Fernández, Steel, Dora, Stevanović, Galina, Sykut-Cegielska, Jolanta, Verbeek, Marcel M., García-Cazorla, Angeles, Opladen, Thomas
Published in Nature communications (20.09.2021)
Published in Nature communications (20.09.2021)
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Journal Article
Home visits in phenylketonuria: a 12-month longitudinal study
Gökmen-Ozel, Hülya, Büyüktuncer, Zehra, Köksal, Gülden, Kalkanoğlu-Sivri, H Serap, Coşkun, Turgay
Published in Turkish journal of pediatrics (01.03.2011)
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Published in Turkish journal of pediatrics (01.03.2011)
Journal Article
Imaging liver nodules in tyrosinemia type-1: A retrospective review of 16 cases in a tertiary pediatric hospital
Ozcan, H. Nursun, Karcaaltincaba, Musturay, Pektas, Emine, Sivri, H. Serap, Oguz, Berna, Dursun, Ali, Tokatli, Aysegul, Coskun, Turgay, Haliloglu, Mithat
Published in European journal of radiology (01.07.2019)
Published in European journal of radiology (01.07.2019)
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Journal Article
Recommendations on phenylketonuria in Turkey
Coşkun, Turgay, Çoker, Mahmut, Mungan, Neslihan Önenli, Özel, Hülya Gökmen, Sivri, H Serap
Published in The Turkish journal of pediatrics (2022)
Published in The Turkish journal of pediatrics (2022)
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Journal Article
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
Burton, Barbara K., Hermida, Álvaro, Bélanger-Quintana, Amaya, Bell, Heather, Bjoraker, Kendra J., Christ, Shawn E., Grant, Mitzie L., Harding, Cary O., Huijbregts, Stephan C.J., Longo, Nicola, McNutt, Markey C., Nguyen-Driver, Mina D., Santos Pessoa, André L., Rocha, Júlio César, Sacharow, Stephanie, Sanchez-Valle, Amarilis, Sivri, H. Serap, Vockley, Jerry, Walterfang, Mark, Whittle, Sarah, Muntau, Ania C.
Published in Molecular genetics and metabolism (01.09.2022)
Published in Molecular genetics and metabolism (01.09.2022)
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Journal Article
Does glutaric aciduria type 1 affect hearing function?
Özgedi̇k, Dilek Demiral, Tokgöz Yılmaz, Suna, Gürbüz, Berrak Bilginer, Si̇vri̇, H. Serap, Sennaroğlu, Gonca
Published in Metabolic brain disease (01.08.2022)
Published in Metabolic brain disease (01.08.2022)
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