Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Telemedicine Applications in a Tertiary Pediatric Hospital in Turkey During COVID-19 Pandemic.

Telemedicine journal and e-health : the official journal of the American Telemedicine Association, 2020 (SCI Expanded İndekslerine Giren Dergi) identifier identifier

Screening for fabry disease in patients with juvenile systemic lupus erythematosus

Archives of Rheumatology, cilt.35, sa.1, ss.7-12, 2020 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Treatment of maple syrup urine disease with high flow hemodialysis in a neonate

TURKISH JOURNAL OF PEDIATRICS, cilt.61, sa.1, ss.107-110, 2019 (SCI İndekslerine Giren Dergi) Creative Commons License identifier identifier identifier

Coagulation Disturbances in Patients with Argininemia

ACTA HAEMATOLOGICA, cilt.140, sa.4, ss.221-225, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Hereditary Tyrosinemia Type 1 in Turkey.

Advances in experimental medicine and biology, cilt.959, ss.157-172, 2017 (SCI İndekslerine Giren Dergi) identifier identifier

Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation

ANNALS OF INDIAN ACADEMY OF NEUROLOGY, cilt.18, sa.4, ss.471-474, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modifification

INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, cilt.81, sa.3, ss.303-305, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Hereditary tyrosinemia type 1 in Turkey: Twenty year single-center experience

Pediatrics International, cilt.57, sa.2, ss.281-289, 2015 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Bitterness of Glucose/Galactose: Novel Mutations in the SLC5A1 Gene

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, cilt.58, sa.1, ss.57-60, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

GLUTARIC ACIDURIA TYPE I ASSOCIATED WITH HEMIHYPERTROPHY IN AN INFANT

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.33, 2010 (SCI İndekslerine Giren Dergi) identifier

The effect of low-carbohydrate diet on left ventricular diastolic function in obese children

PEDIATRICS INTERNATIONAL, cilt.52, sa.2, ss.218-223, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Management of phenylketonuria in Europe: Survey results from 19 countries

MOLECULAR GENETICS AND METABOLISM, cilt.99, sa.2, ss.109-115, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Persistent metabolic acidosis in ARC syndrome: A case report

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.30, ss.142, 2007 (SCI İndekslerine Giren Dergi) identifier

Encephalopathy in type I hyperlipidemia.

Indian pediatrics, cilt.44, sa.4, ss.306-8, 2007 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Seizures during treatment of Vitamin B12 deficiency.

Seizure, cilt.16, sa.1, ss.69-73, 2007 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Turkish experience on the epidemiology of organic acidurias

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.29, ss.52, 2006 (SCI İndekslerine Giren Dergi) identifier

Isovaleric acidaemia: cranial CT and MRI findings.

Pediatric radiology, cilt.34, ss.160-2, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Wilson disease manifested primarily as amenorrhea and accompanying thrombocytopenia

Journal of Adolescent Health, cilt.31, sa.4, ss.378-380, 2002 (SCI Expanded İndekslerine Giren Dergi) Creative Commons License identifier identifier identifier

Cogan's syndrome: A rare vasculitis in childhood [10]

Journal of Rheumatology, cilt.27, sa.7, ss.1824-1825, 2000 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.55, sa.3, ss.290-298, 2020 (ESCI İndekslerine Giren Dergi) identifier identifier

Nitisinone: A review

Orphan Drugs: Research and Reviews, cilt.7, ss.25-35, 2017 (Diğer Kurumların Hakemli Dergileri) Creative Commons License identifier identifier

Decreased Serum Biotinidase Activity in Adult Patients With Decompensated Liver Cirrhosis

MEDICAL JOURNAL OF BAKIRKOY, cilt.7, sa.2, ss.68-70, 2011 (ESCI İndekslerine Giren Dergi) identifier identifier

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Chemometric Optimization of Malonic Acid Biomarkers in Urine by Capillary Electrophoresis

FOURTH INTERNATIONAL CONFERENCE ONNEW TRENDS IN CHEMOMETRICS AND APPLICATION, Aydın, Türkiye, 1 - 04 Mayıs 2019, ss.1-3 Creative Commons License

Clinical Presentation and Follow Up of Patients with Lysinuric Protein Intolerance

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.146-306 Creative Commons License

Lysinuric Protein Intolerance in Differential Diagnosis of Hemophagocytic Lymphohistiocytosis

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRES, İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.306-547 Creative Commons License

Galactosemia Among Turkish Children: Presentation and Outcome from a Pediatric Metabolism Center.

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.146-306 Creative Commons License

An Alternative Method For Diagnosing Inborn Metabolic Diseases Capillary Electrophoresis

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, İstanbul, Türkiye, 10 - 14 Nisan 2019, ss.10-13 Creative Commons License

Yenidoğan Taramasında Biokimyasal ve Moleküler Yöntemler

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 25 - 30 Nisan 2017, ss.2

NONKETOTİK HİPERGLİSİNEMİLERDE KETOJENİK DİYET ETKİNLİĞİ

XIII. ULUSAL METABOLİK HASTALIKLAR VE BESLENME KONGRESİ, Adana, Türkiye, 14 - 18 Nisan 2015, ss.162 Creative Commons License

EXPANDED NEWBORN SCREENING EXPERIENCE IN TURKEY: RESULTS OF A SINGLE SCREENING CENTER

11th International Conference of Inborn Errors of Metabolism, California, Amerika Birleşik Devletleri, 29 Ağustos - 02 Eylül 2009, cilt.98, ss.107 identifier

LONG TERM FALLOW UP OF A PATIENT WITH GA TYPE I( 10 YEARS)

VI.INTERNATIONAL NUTRITION AND DIETETICS CONGRESS, Antalya, Türkiye, 2 - 06 Nisan 2008, ss.234-235 Creative Commons License

Kitap & Kitap Bölümleri

Hereditary Tyrosinemia Type 1 in Turkey

Hereditary Tyrosinemia, Tanguay Robert M, Editör, Springer, London/Berlin , Quebec, ss.157-172, 2017

Hereditary Tyrosinemia Type 1 in Turkey

Hereditary Tyrosinemia Pathogenesis, Screening and Management, Tanguay R., Editör, Springer, London/Berlin , Cham, ss.157-172, 2017

Nörotransmitter metabolizması bozuklukları

YURDAKÖK PEDİATRİ, Yurdakök M, Editör, Güneş Tıp Kitabevleri, Ankara, ss.1895-1901, 2017