Biotinidase Deficiency: Prevalence, Impact And Management Strategies
Canda, Ebru, Kalkan Uçar, Sema, Çoker, Mahmut
Published in Pediatric health, medicine and therapeutics (01.01.2020)
Published in Pediatric health, medicine and therapeutics (01.01.2020)
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Journal Article
Primary Carnitine Deficiency as a Treatable Cause of Heart Failure in Young Patients
Kayıkçıoğlu, Meral, Özbay, Benay, Yağmur, Burcu, Canda, Ebru, Bayraktaroğlu, Selen, Şimşek, Evrim, Kalkan Uçar, Sema
Published in Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir (01.10.2022)
Published in Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir (01.10.2022)
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Journal Article
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
Grünert, Sarah C., Derks, Terry G.J., Adrian, Katarina, Al-Thihli, Khalid, Ballhausen, Diana, Bidiuk, Joanna, Bordugo, Andrea, Boyer, Monica, Bratkovic, Drago, Brunner-Krainz, Michaela, Burlina, Alberto, Chakrapani, Anupam, Corpeleijn, Willemijn, Cozens, Alison, Dawson, Charlotte, Dhamko, Helena, Milosevic, Maja Djordjevic, Eiroa, Hernan, Finezilber, Yael, Moura de Souza, Carolina Fischinger, Garcia-Jiménez, Maria Concepción, Gasperini, Serena, Haas, Dorothea, Häberle, Johannes, Halligan, Rebecca, Fung, Law Hiu, Hörbe-Blindt, Alexandra, Horka, Laura Maria, Huemer, Martina, Uçar, Sema Kalkan, Kecman, Bozica, Kilavuz, Sebile, Kriván, Gergely, Lindner, Martin, Lüsebrink, Natalia, Makrilakis, Konstantinos, Mei-Kwun Kwok, Anne, Maier, Esther M., Maiorana, Arianna, McCandless, Shawn E., Mitchell, John James, Mizumoto, Hiroshi, Mundy, Helen, Ochoa, Carlos, Pierce, Kathryn, Fraile, Pilar Quijada, Regier, Debra, Rossi, Alessandro, Santer, René, Schuman, Hester C., Sobieraj, Piotr, Spenger, Johannes, Spiegel, Ronen, Stepien, Karolina M., Tal, Galit, Tanšek, Mojca Zerjav, Torkar, Ana Drole, Tchan, Michel, Thyagu, Santhosh, Schrier Vergano, Samantha A., Vucko, Erika, Weinhold, Natalie, Zsidegh, Petra, Wortmann, Saskia B.
Published in Genetics in medicine (01.08.2022)
Published in Genetics in medicine (01.08.2022)
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Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial
Bax, Bridget E, Levene, Michelle, Bain, Murray D, Fairbanks, Lynette D, Filosto, Massimiliano, Kalkan Uçar, Sema, Klopstock, Thomas, Kornblum, Cornelia, Mandel, Hanna, Rahman, Shamima, Roubertie, Agathe, Scarpelli, Mauro, Sedgwick, Philip M, Baru, Moshe, Sellos-Moura, Marcia, Price, Jeanie, Horn, Patrick, Nirmalananthan, Niranjanan
Published in Journal of clinical medicine (24.07.2019)
Published in Journal of clinical medicine (24.07.2019)
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Journal Article
Long-term follow-up of alkaptonuria patients: single center experience
Bozaci, Ayse Ergul, Yazici, Havva, Canda, Ebru, Uçar, Sema Kalkan, Guvenc, Merve Saka, Berdeli, Afig, Habif, Sara, Coker, Mahmut
Published in Journal of Pediatric Endocrinology & Metabolism (26.07.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (26.07.2022)
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Journal Article
LC-MS/MS measurement of leukocyte cystine; effect of preanalytic factors
Canbay, Erhan, Sezer, Ebru Demirel, Uçar, Sema Kalkan, Çoker, Mahmut, Sözmen, Eser Yıldırım
Published in Talanta (Oxford) (01.03.2020)
Published in Talanta (Oxford) (01.03.2020)
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Journal Article
Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population
Onay, Hüseyin, Bolat, Hilmi, Kılıç Yıldırım, Gonca, Kose, Engin, Kalkan Uçar, Sema, Aşıkovalı, Semih, Özkınay, Ferda, Çoker, Mahmut
Published in Journal of Pediatric Endocrinology & Metabolism (01.10.2020)
Published in Journal of Pediatric Endocrinology & Metabolism (01.10.2020)
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Journal Article
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop
Grünert, Sarah C., Derks, Terry G.J., Mundy, Helen, Dalton, R. Neil, Donadieu, Jean, Hofbauer, Peter, Jones, Neil, Uçar, Sema Kalkan, LaFreniere, Jamas, Contreras, Enrique Landelino, Pendyal, Surekha, Rossi, Alessandro, Schneider, Blair, Spiegel, Ronen, Stepien, Karolina M., Wesol-Kucharska, Dorota, Veiga-da-Cunha, Maria, Wortmann, Saskia B.
Published in Molecular genetics and metabolism (01.03.2024)
Published in Molecular genetics and metabolism (01.03.2024)
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Journal Article
Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels
Canbay, Erhan, Sezer, Ebru, Canda, Ebru, Yazıcı, Havva, Kalkan Uçar, Sema, Çoker, Mahmut, Yildirim Sözmen, Eser
Published in ACS omega (20.02.2024)
Published in ACS omega (20.02.2024)
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Journal Article
Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome
Ozek, Gülcihan, Aksoylar, Serap, Uçar, Sema Kalkan, Canda, Ebru, Akcan, Mediha, Cartı, Ozgür, Siviş, Zuhal Onder, Oymak, Yeşim, Yazıcı, Havva, Bax, Bridget, Bulut, Fatma Derya, Yoldaş Çelik, Merve, Erdem, Fehime, Çoker, Mahmut, Kansoy, Savaş
Published in Pediatric blood & cancer (01.07.2023)
Published in Pediatric blood & cancer (01.07.2023)
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Journal Article
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form
Yazıcı, Havva, Ak, Gunes, Çelik, Merve Yoldas, Erdem, Fehime, Yanbolu, Ayse Yuksel, Er, Esra, Bozacı, Ayse Ergül, Güvenç, Merve Saka, Aykut, Ayca, Durmaz, Asude, Canda, Ebru, Uçar, Sema Kalkan, Çoker, Mahmut
Published in Journal of Pediatric Endocrinology and Metabolism (29.01.2024)
Published in Journal of Pediatric Endocrinology and Metabolism (29.01.2024)
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Journal Article
Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes
Gautheron, Jérémie, Lima, Lara, Akinci, Baris, Zammouri, Jamila, Auclair, Martine, Ucar, Sema Kalkan, Ozen, Samim, Altay, Canan, Bax, Bridget E, Nemazanyy, Ivan, Lenoir, Véronique, Prip-Buus, Carina, Acquaviva-Bourdain, Cécile, Lascols, Olivier, Fève, Bruno, Vigouroux, Corinne, Noel, Esther, Jéru, Isabelle
Published in BMC medicine (28.03.2022)
Published in BMC medicine (28.03.2022)
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Journal Article
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan, Nürnberg, Gudrun, Nürnberg, Peter, Kuhn, Joachim, Ozkinay, Ferda
Published in Human genetics (01.01.2014)
Published in Human genetics (01.01.2014)
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Journal Article
Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine
Celik, Merve Yoldas, Canda, Ebru, Yazici, Havva, Erdem, Fehime, Ucar, Sema Kalkan, Coker, Mahmut
Published in The journal of pediatric research (01.12.2022)
Published in The journal of pediatric research (01.12.2022)
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Journal Article
Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy
Kipper, Karin, Hecht, Max, Antunes, Natalicia J, Fairbanks, Lynette D, Levene, Michelle, Kalkan Uçar, Sema, Schaefer, Andrew, Blakely, Emma L, Bax, Bridget E
Published in Journal of clinical medicine (13.03.2020)
Published in Journal of clinical medicine (13.03.2020)
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Journal Article
Coexistence of Gaucher Disease and severe congenital neutropenia
Kose, Melis Demir, Canda, Ebru, Kağnıcı, Mehtap, Uçar, Sema Kalkan, Onay, Hüseyin, Yıldırım Sozmen, Eser, Karapınar, Deniz, Özkınay, Ferda, Çoker, Mahmut
Published in Blood cells, molecules, & diseases (01.05.2019)
Published in Blood cells, molecules, & diseases (01.05.2019)
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Journal Article
Development, optimization and validation of LC-MS/MS method for the determination of DBS GALT enzyme activity
Topbaş, Muhammet, Canbay, Erhan, Sezer, Ebru, Canda, Ebru, Kalkan Uçar, Sema, Çoker, Mahmut, Yıldırım Sözmen, Eser
Published in Analytical biochemistry (01.10.2023)
Published in Analytical biochemistry (01.10.2023)
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Journal Article
COVID-19 and Vaccination Status in Lysosomal Storage Diseases: A Single-Center Experience
Yoldaş Çelik, Merve, Canda, Ebru, Yazıcı, Havva, Erdem, Fehime, Yazıcı Özkaya, Pınar, Bal Sahbudak, Zumrut, Kalkan Uçar, Sema, Çoker, Mahmut
Published in Turkish archives of pediatrics (01.05.2023)
Published in Turkish archives of pediatrics (01.05.2023)
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