Works matching AU Köse, Melis

Results: 23

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

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

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

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

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

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

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

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

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

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

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

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

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

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