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TEKRARLAYAN ŞİDDETLİ RABDOMİYOLİZİN İHMAL EDİLEN NEDENİ, LPIN1 GEN DEFEKTİ: TÜRKİYE'DEN İLK VAKA.
Published in:
Journal of Pediatric Emergency & Intensive Care Medicine / Çocuk Acil ve Voğun Bakım Dergisi, 2018, v. 5, p. 300
By:
- Topal, Sevgi;
- Köse, Melis Demir;
- Ağın, Hasan
Publication type:
Article
Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.
Published in:
Neurological Sciences, 2021, v. 42, n. 3, p. 1103, doi. 10.1007/s10072-021-05067-8
By:
- Kose, Melis;
- Kose, Engin;
- Ünalp, Aycan;
- Yılmaz, Ünsal;
- Edizer, Selvinaz;
- Tekin, Hande Gazeteci;
- Karaoğlu, Pakize;
- Özdemir, Taha Reşid;
- Er, Esra;
- Onay, Hüseyin;
- Yildirim, Eser Sozmen
Publication type:
Article
Inborn errors of metabolism in palliative care.
Published in:
Pediatrics International, 2021, v. 63, n. 10, p. 1175, doi. 10.1111/ped.14660
By:
- Harputluoğlu, Nilgün;
- Köse, Melis;
- Yılmaz, Ünsal;
- Çelik, Tanju
Publication type:
Article
Clinical and Molecular Features of Our Pompe Patients: Single-Center Experience.
Published in:
Medical Journal of Bakirkoy, 2020, v. 16, n. 1, p. 49, doi. 10.5222/BMJ.2020.91855
By:
- Köse, Melis;
- Köse, Engin;
- Kağnıcı, Mehtap;
- Ünalp, Aycan;
- Yılmaz, Ünsal;
- Yılmaz, Murat Muhtar;
- Meşe, Timur;
- Edizer, Selvinaz;
- Gürsoy, Semra;
- Onay, Hüseyin;
- Yıldırım, Eser Sözmen
Publication type:
Article
A surprising cause of proteinuria: Answers.
Published in:
2022
By:
- Demir, Belde Kasap;
- Kanık, Ali;
- Köse, Melis;
- Hişmi, Burcu Öztürk;
- Baran, Maşallah
Publication type:
Question & Answer
A surprising cause of proteinuria: Questions.
Published in:
2022
By:
- Demir, Belde Kasap;
- Kanık, Ali;
- Köse, Melis;
- Hişmi, Burcu Öztürk;
- Baran, Maşallah
Publication type:
Case Study
The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 7, p. 957, doi. 10.1515/jpem-2021-0018
By:
- Avci Durmusalioglu, Enise;
- Isik, Esra;
- Ayyildiz Emecen, Durdugul;
- Goksen, Damla;
- Ozen, Samim;
- Onay, Huseyin;
- Kose, Melis;
- Atik, Tahir;
- Darcan, Sukran;
- Cogulu, Ozgur;
- Ozkinay, Ferda
Publication type:
Article
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 4, p. 417, doi. 10.1515/jpem-2020-0410
By:
- Kose, Melis;
- Isik, Esra;
- Aykut, Ayça;
- Durmaz, Asude;
- Kose, Engin;
- Ersoy, Melike;
- Diniz, Gulden;
- Adebali, Ogun;
- Ünalp, Aycan;
- Yilmaz, Ünsal;
- Karaoğlu, Pakize;
- Edizer, Selvinaz;
- Tekin, Hande Gazeteci;
- Özdemir, Taha Reşid;
- Atik, Tahir;
- Onay, Hüseyin;
- Özkınay, Ferda
Publication type:
Article
Cascade screening and treatment of children with familial hypercholesterolemia in Turkey.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 10, p. 1251, doi. 10.1515/jpem-2020-0234
By:
- Kose, Engin;
- Kose, Melis;
- Ozturk, Sureyya Ipek;
- Ozcan, Esra;
- Onay, Huseyin;
- Ozkan, Behzat
Publication type:
Article
Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 4, p. 569, doi. 10.1515/jpem-2019-0307
By:
- Demir Köse, Melis;
- Colak, Ruya;
- Yangin Ergon, Ezgi;
- Kulali, Ferit;
- Yildiz, Meral;
- Alkan, Senem;
- Atilgan, Taner;
- Aslan, Fatma;
- Brown, Ruth;
- Brown, Garry;
- Serdaroğlu, Erkin;
- Çalkavur, Sebnem
Publication type:
Article
Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 1, p. 157, doi. 10.1515/jpem-2019-0377
By:
- Köse, Melis Demir;
- Kagnici, Mehtap;
- Özdemir, Taha Reşit;
- Erdur, Cahit Barış;
- Erdemir, Gülin;
- Karakoyun, Miray;
- Guzin, Yiğit;
- Ceylaner, Serdar;
- Genel, Ferah
Publication type:
Article
Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 7, p. 675, doi. 10.1515/jpem-2018-0457
By:
- Teke Kisa, Pelin;
- Kose, Melis;
- Unal, Ozlem;
- Er, Esra;
- Hismi, Burcu Ozturk;
- Bulbul, Fatma Selda;
- Kose, Engin;
- Gunduz, Mehmet;
- Canda, Ebru;
- Kucukcongar, Aynur;
- Arslan, Nur
Publication type:
Article
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 8, p. 917, doi. 10.1515/jpem-2018-0148
By:
- Canda, Ebru;
- Yazici, Havva;
- Er, Esra;
- Kose, Melis;
- Basol, Gunes;
- Onay, Huseyin;
- Ucar, Sema Kalkan;
- Habif, Sara;
- Ozkinay, Ferda;
- Coker, Mahmut
Publication type:
Article
Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 11/12, p. 1265, doi. 10.1515/jpem-2014-0107
By:
- Aykut, Ayca;
- Onay, Huseyin;
- Kose, Melis;
- Erbas Canda, Ebru;
- Karaca, Emin;
- Coker, Mahmut;
- Ozkinay, Ferda
Publication type:
Article
P-Wave Dispersion: An Indicator of Cardiac Autonomic Dysfunction in Children With Neurocardiogenic Syncope.
Published in:
Pediatric Cardiology, 2014, v. 35, n. 4, p. 596, doi. 10.1007/s00246-013-0825-y
By:
- Köse, Melis;
- Bağ, Özlem;
- Güven, Barış;
- Meşe, Timur;
- Öztürk, Aysel;
- Tavlı, Vedide
Publication type:
Article
A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy.
Published in:
2022
By:
- Ünalp, Aycan;
- Köse, Melis;
- Karaoğlu, Pakize;
- Güzin, Yiğithan;
- Yılmaz, Ünsal
Publication type:
Case Study
The effectiveness of the ketogenic diet in drug-resistant childhood epilepsy.
Published in:
Turkish Journal of Pediatrics, 2022, v. 64, n. 2, p. 210, doi. 10.24953/turkjped.2021.4
By:
- Yılmaz, Ünsal;
- Edizer, Selvinaz;
- Akışin, Zeynep;
- Köse, Melis;
- Güzin, Yiğithan;
- Gürbüz, Gürkan;
- Baysal, Bahar Toklu;
- Sarıtaş, Serdar;
- Pekuz, Serdar;
- Kırkgöz, Hatice Hilal;
- Yavuz, Merve;
- Ünalp, Aycan
Publication type:
Article
Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene.
Published in:
Turkish Journal of Pediatrics, 2020, v. 62, n. 4, p. 652, doi. 10.24953/turkjped.2020.04.016
By:
- Köse, Engin;
- Köse, Melis;
- Edizer, Selvinaz;
- Akışın, Zeynep;
- Yılmaz, Zehra Burcu;
- Şahin, Ahmet;
- Genel, Ferah
Publication type:
Article
A neglected cause of recurrent rhabdomyolysis, LPIN1 gene defect: a rare case from Turkey.
Published in:
Turkish Journal of Pediatrics, 2020, v. 62, n. 4, p. 647, doi. 10.24953/turkjped.2020.04.015
By:
- Topal, Sevgi;
- Köse, Melis Demir;
- Ağın, Hasan;
- Sarı, Ferhat;
- Çolak, Mustafa;
- Atakul, Gülhan;
- Karaarslan, Utku;
- İşgüder, Rana
Publication type:
Article
N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1<sup>−/−</sup> zebrafish deletion models of Leigh syndrome.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 12, p. 1988, doi. 10.1093/hmg/ddad031
By:
- Haroon, Suraiya;
- Yoon, Heeyong;
- Seiler, Christoph;
- Osei-Frimpong, Bruce;
- He, Jie;
- Nair, Rohini M;
- Mathew, Neal D;
- Burg, Leonard;
- Kose, Melis;
- Venkata, Chavali R M;
- Anderson, Vernon E;
- Nakamaru-Ogiso, Eiko;
- Falk, Marni J
Publication type:
Article
Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities.
Published in:
Clinical Genetics, 2022, v. 101, n. 2, p. 247, doi. 10.1111/cge.14081
By:
- Alawbathani, Salem;
- Westenberger, Ana;
- Ordonez‐Herrera, Natalia;
- Al‐Hilali, Mariam;
- Al Hebby, Homoud;
- Alabbas, Fahad;
- Alhashem, Amal M.;
- Elyamany, Ghaleb;
- Megarbane, André;
- Kose, Melis;
- Alhashmi, Nadia;
- Al Sukaiti, Nashat;
- Al‐Raqad, Mohammed;
- Al‐Tawalbeh, Samah;
- Abu Adas Blanco, Omar;
- Alkhattabi, Fadiah;
- Sng, Danielle;
- Al‐Ali, Ruslan;
- Khan, Suliman;
- Tawamie, Hasan
Publication type:
Article
Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.
Published in:
BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02015-1
By:
- Atik, Tahir;
- Avci Durmusalioglu, Enise;
- Isik, Esra;
- Kose, Melis;
- Kanmaz, Seda;
- Aykut, Ayca;
- Durmaz, Asude;
- Ozkinay, Ferda;
- Cogulu, Ozgur
Publication type:
Article
A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate.
Published in:
Case Reports in Pediatrics, 2017, p. 1, doi. 10.1155/2017/1045031
By:
- Köse, Melis;
- Canda, Ebru;
- Kagnici, Mehtap;
- Uçar, Sema Kalkan;
- Çoker, Mahmut
Publication type:
Article
Effect of CTLA-4 and TNF-α Gene Polymorphisms on Inhibitor Development in a Turkish Cohort of Severe Hemophilia A Cases with Intron 22 Inversion Mutation: An Analytical Study.
Published in:
Turkiye Klinikleri Journal of Medical Sciences, 2022, v. 42, n. 3, p. 159, doi. 10.5336/medsci.2021-86664
By:
- MEHDİYEVA, Humay;
- IŞIK, Esra;
- KÖSE, Melis;
- AKGÜN, Bilçağ;
- DURMUŞ, Başak;
- ALPAY, Araz;
- KAVAKLI, Kaan;
- EVİM, Melike Sezgin;
- ÖZBEK, Namık Yaşar;
- ONAY, Hüseyin;
- OZKINAY, Ferda;
- ATIK, Tahir
Publication type:
Article
Evaluation of the Neurodevelopmental Status for Urea Cycle Disorders: Based on Clinical Experience.
Published in:
Journal of Pediatric Research, 2023, v. 10, n. 3, p. 182, doi. 10.4274/jpr.galenos.2023.96992
By:
- Bozacı, Ayşe Ergül;
- Göksoy, Emine;
- Ünal, Aysel Tekmenuray;
- Albayrak, Hatice Mutlu;
- Taş, İbrahim;
- Kanar, Berat;
- Özbek, Mehmet Nuri;
- Köse, Melis
Publication type:
Article
Outcomes of Dyslipidemia Screening Program in School-aged Children.
Published in:
Journal of Pediatric Research, 2021, v. 8, n. 2, p. 155, doi. 10.4274/jpr.galenos.2020.02693
By:
- Köse, Engin;
- Köse, Melis;
- Topçu, Sipil;
- Matur, Büşra;
- Barış, Buket;
- Özkan, Behzat
Publication type:
Article
Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis.
Published in:
Journal of Pediatric Research, 2019, v. 6, n. 2, p. 121, doi. 10.4274/jpr.galenos.2018.21548
By:
- Canda, Ebru;
- Köse, Melis;
- Kağnıcı, Mehtap;
- Dondurmacı, Meral;
- Uçar, Sema Kalkan;
- Sözmen, Eser;
- Levent, Reşit Ertürk;
- Çöker, Mahmut
Publication type:
Article
Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria.
Published in:
Journal of Pediatric Research, 2018, v. 5, p. 39, doi. 10.4274/jpr.59454
By:
- Canda, Ebru;
- Köse, Melis;
- Yazıcı, Havva;
- Er, Esra;
- Eraslan, Cenk;
- Uçar, Sema Kalkan;
- Habif, Sara;
- Karaca, Emin;
- Onay, Hüseyin;
- Özkınay, Ferda;
- Çoker, Mahmut
Publication type:
Article
Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures.
Published in:
Journal of Pediatric Research, 2016, v. 3, n. 2, p. 113, doi. 10.4274/jpr.25338
By:
- Köse, Melis Demir;
- Canda, Ebru;
- Kağnıcı, Mehtap;
- İşgüder, Rana;
- Ünalp, Aycan;
- Uçar, Sema Kalkan;
- Bahr, Luzy;
- Britschgi, Corinne;
- Sass, Jörn Oliver;
- Çoker, Mahmut
Publication type:
Article
Dallı Zincirli Aminoasidopati Sonucu Gelişen Organik Asidemiler: Ege Tıp Deneyimi.
Published in:
Journal of Pediatric Research, 2016, v. 3, n. 2, p. 76, doi. 10.4274/jpr.76598
By:
- Demir Köse, Melis;
- Canda, Ebru;
- Kağnıcı, Mehtap;
- Atik Altınok, Yasemin;
- Kalkan Uçar, Sema;
- Habif, Sara;
- Onay, Hüseyin;
- Çoker, Mahmut
Publication type:
Article
Congenital Disorder of Glycosylation: Clinical and ID Molecular Characteristics of 9 Patients from Turkey.
Published in:
Journal of Dr. Behcet Uz Children's Hospital, 2020, v. 10, n. 3, p. 267, doi. 10.5222/buchd.2020.09471
By:
- Köse, Melis;
- Köse, Engin;
- Kağnıcı, Mehtap;
- Tekin, Hande Gazeteci;
- Özen, Burçin;
- Özdemir, Taha Resid;
- Kırbıyık, Özgür;
- Onay, Hüseyin;
- Yılmaz, Ünsal;
- Ünalp, Aycan
Publication type:
Article
Doğumsal Metabolik Hastalıklı Olgularda Üç Yıllık ID Deneyimimiz.
Published in:
Journal of Dr. Behcet Uz Children's Hospital, 2019, v. 9, n. 2, p. 143, doi. 10.5222/buchd.2019.62533
By:
- Kulalı, Ferit;
- Köse, Melis;
- Çelik, Tuğçe Candan;
- Ergon, Ezgi Yangın;
- Kalkanlı, Oğuz Han;
- Çolak, Rüya;
- Yıldız, Meral;
- Özdemir, Senem Alkan;
- Yıldırım, Tülin Gökmen;
- Çalkavur, Şebnem
Publication type:
Article
Üçüncü basamak bir çocuk hastanesindeki ketojenik diyet ekibinin ketojenik diyet tedavisi deneyimleri.
Published in:
Journal of Dr. Behcet Uz Children's Hospital, 2018, v. 8, n. 3, p. 175, doi. 10.5222/buchd.2018.64935
By:
- ÜNALP, Aycan;
- GÜRBÜZ, Gürkan;
- EDIZER, Selvinaz;
- TOKLU BAYSAL, Bahar;
- AKIŞIN, Zeynep;
- KÖSE, Melis;
- ÇALIK, Tansel;
- YILMAZ, Ünsal
Publication type:
Article

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