Hasil Pencarian - Sema Kalkan Ucar

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  1. 1
    Editorial

    Editorial oleh Sema Kalkan Uçar

    Diterbitkan 2018-03-01
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  2. 2
    Editorial

    Editorial oleh Sema Kalkan Uçar

    Diterbitkan 2020-06-01
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  3. 3
    False Positive Diagnosis of Lysosomal Storage Disease Based on Dried Blood Spot Sample; Leucocyte Number of a Challenging Factor

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

    Diterbitkan 2018-03-01
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  4. 4
    A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

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

    Diterbitkan 2017-01-01
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  5. 5
    Two siblings with galactose mutarotase deficiency: Clinical differences

    Two siblings with galactose mutarotase deficiency: Clinical differences oleh Havva Yazici, Ebru Canda, Yasemin Atik Altınok, Sema Kalkan Ucar, Mahmut Coker

    Diterbitkan 2022-01-01
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  6. 6
    Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

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

    Diterbitkan 2018-03-01
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  7. 7
    Clinical Presentation and Follow Up of Patients with Mucopolysaccharidosis Type IVA (Morquio A Disease): Single Center Experience

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

    Diterbitkan 2018-03-01
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  8. 8
    Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye

    Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye oleh İlayda Korkmaz, Sema Kalkan Uçar, Hüseyin Onay, Eser Yıldırım Sözmen, Mahmut Çoker, Melis Palamar

    Diterbitkan 2024-06-01
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  9. 9
    Impact of the COVID-19 Pandemic on Inherited Metabolic Diseases: Evaluation of Enzyme Replacement Treatment Adherence with Telemedicine

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

    Diterbitkan 2022-12-01
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  10. 10
    Fabry disease: An overlooked diagnosis in adult cardiac patients

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

    Diterbitkan 2017-09-01
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  11. 11
    An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis

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

    Diterbitkan 2018-03-01
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  12. 12
    Clinical, Biochemical and Molecular Characteristics of Fifteen Patients with Mucopolysaccharidosis Type II in Western Turkey

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

    Diterbitkan 2018-03-01
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  13. 13
    Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone

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

    Diterbitkan 2018-03-01
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  14. 14
    Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels

    Development of a New Amperometric Biosensor for Measurement of Plasma Galactose Levels oleh Erhan Canbay, Ebru Sezer, Ebru Canda, Havva Yazıcı, Sema Kalkan Uçar, Mahmut Çoker, Eser Yildirim Sözmen

    Diterbitkan 2024-02-01
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  15. 15
    Initial and Final Status of the Patients with Niemann Pick A and B: Ege University Experience

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

    Diterbitkan 2018-03-01
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  16. 16
    Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis

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

    Diterbitkan 2019-06-01
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  17. 17
    Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy

    Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy oleh Sema Kalkan Uçar, Havva Yazıcı, Ebru Canda, Esra Er, Fatma Derya Bulut, Cenk Eraslan, Hüseyin Onay, Bridget Elizabeth Bax, Mahmut Çoker

    Diterbitkan 2022-09-01
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  18. 18
    A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage

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

    Diterbitkan 2021-08-01
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  19. 19
    Nephrotic syndrome in a patient with Glycogen Storage Disease Type IXb.

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

    Diterbitkan 2022-12-01
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  20. 20
    Mild Aromatic L-Amino Acid Decarboxylase Deficiency Causing Hypoketotic Hypoglycemia in a 4-year-old Girl

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

    Diterbitkan 2024-09-01
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