Rezultaty - Sema Kalkan Ucar

Editorial od Sema Kalkan Uçar

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Editorial od Sema Kalkan Uçar

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False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor od Eser Yıldırım Sözmen, Meral Dondurmacı, Sema Kalkan Uçar, Mahmut Çoker

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A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate od Melis Köse, Ebru Canda, Mehtap Kagnici, Sema Kalkan Uçar, Mahmut Çoker

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Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey od Havva Yazıcı, Esra Er, Ebru Canda, Sara Habif, Sema Kalkan Uçar, Mahmut Çoker

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Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience od Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Sema Kalkan Uçar, Mahmut Çoker

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Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine od Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, Fehime Erdem, Sema Kalkan Uçar, Mahmut Çöker

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Fabry disease: An overlooked diagnosis in adult cardiac patients od Meral Kayıkçıoğlu, Evrim Şimşek, Sema Kalkan Uçar, Selen Bayraktaroğlu, Hüseyin Onay, Eser Sözmen, Mahmut Çoker

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An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis od Esra Er, Ebru Canda, Havva Yazıcı, Cenk Eraslan, Eser Sözmen, Sema Kalkan Uçar, Mahmut Çoker

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Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey od Havva Yazıcı, Ebru Canda, Esra Er, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker

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Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone od Havva Yazıcı, Ebru Canda, Esra Er, Mehmet Arda Kılınç, Sema Kalkan Uçar, Bülent Karapınar, Mahmut Çoker

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Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience od Ebru Canda, Havva Yazıcı, Esra Er, Sema Kalkan Uçar, Hüseyin Onay, Eser Sözmen, Ferda Özkınay, Mahmut Çoker

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Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis od Ebru Canda, Melis Köse, Mehtap Kağnıcı, Meral Dondurmacı, Sema Kalkan Uçar, Eser Sözmen, Reşit Ertürk Levent, Mahmut Çöker

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A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage od Havva Yazıcı, Ebru Canda, Esra Er, Baris Malbora, Burcu Ozturk Hismi, Huseyin Onay, Serap Aksoylar, Sema Kalkan Uçar, Ferda Ozkinay, Mahmut Çoker

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Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb. od Merve Yoldas Celik, Havva Yazıcı, Fehime Erdem, Ebru Canda, Banu Sarsik Kumbaraci, Ipek Kaplan Bulut, Sema Kalkan Ucar, Süleyman Caner Kabasakal, Mahmut Çoker

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Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl od Merve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, Fehime Erdem, Ayşe Yüksel Yanbolu, Ayça Aykut, Asude Durmaz, Ahmet Anık, Sema Kalkan Uçar, Mahmut Çoker

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Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria od Ebru Canda, Melis Köse, Havva Yazıcı, Esra Er, Cenk Eraslan, Ferda Özkınay, Mahmut Çoker, Sema Kalkan Uçar, Sara Habif, Emin Karaca, Hüseyin Onay

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Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis od Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Yasemin Atik Altınok, Hepsen Mine Serin, Sara Habif, Gül Serdaroğlu, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker

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