Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Recurrent Postinfectious Rhabdomyolysis in a 5-Year-Old Girl.

Klinische Padiatrie, 2020 (SCI Expanded İndekslerine Giren Dergi) identifier

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome

Journal of clinical research in pediatric endocrinology, 2020 (SCI Expanded İndekslerine Giren Dergi) identifier

Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.], cilt.20, ss.644-646, 2020 (SCI Expanded İndekslerine Giren Dergi) identifier identifier

Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, ss.721-728, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Comment on: "Multiple acyl-CoA dehydrogenase deficiency in elderly carriers"

JOURNAL OF NEUROLOGY, cilt.267, ss.1209-1210, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Oral health status of children with phenylketonuria

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, ss.361-365, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Inborn errors of metabolism in the differential diagnosis of fatty liver disease

TURKISH JOURNAL OF GASTROENTEROLOGY, cilt.31, ss.3-16, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Rare cause of high anion gap metabolic acidosis in an infant: Succinyl-CoA:3-ketoacid transferase deficiency

JOURNAL OF PAEDIATRICS AND CHILD HEALTH, cilt.55, ss.1395-1396, 2019 (SCI İndekslerine Giren Dergi) identifier identifier

Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management

EUROPEAN JOURNAL OF PEDIATRICS, cilt.178, ss.1005-1011, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Cognitive and behavioral impairment in mild hyperphenylalaninemia

TURKISH JOURNAL OF PEDIATRICS, cilt.60, ss.617-624, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Oral health status in patients with mucopolysaccharidoses

TURKISH JOURNAL OF PEDIATRICS, cilt.60, ss.400-406, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Hyperinsulinemic Hypoglycemia in Congenital Disorder of Glycosylation Type-1a (CDG-1a)

HORMONE RESEARCH IN PAEDIATRICS, cilt.90, ss.362-363, 2018 (SCI İndekslerine Giren Dergi) identifier

Diğer Dergilerde Yayınlanan Makaleler

Mukopolisakkaridozlarda ortopedik sorunlar

TOTBİD Dergisi, cilt.15, ss.303-310, 2016 (Diğer Kurumların Hakemli Dergileri)

Kalıtsal Metabolik Hastalıklarda Dental Bulgular

Türkiye Klinikleri Çocuk Diş Hekimliği - Özel Konular, cilt.2, ss.28-33, 2016 (Diğer Kurumların Hakemli Dergileri)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Liver-Directed Gene Therapy Clinical Trial for Mucopolysaccharidosis Type VI

22nd Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), Washington, Kiribati, 29 Nisan - 02 Mayıs 2019, cilt.27, ss.36-37 identifier

Klf5 acts as a differentiation switch from proliferation to fusion in myoblasts

41st FEBS Congress on Molecular and Systems Biology for a Better Life, Kusadasi, Türkiye, 3 - 08 Eylül 2016, cilt.283, ss.114 identifier

Two cases with mucopolysaccharidosis type VII

12th Annual WORLD Symposium, California, Amerika Birleşik Devletleri, 29 Şubat - 04 Mart 2016, cilt.117 identifier

Two adult siblings with progressive walking difficulty and visual disturbances

11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114 identifier

Kitap & Kitap Bölümleri

Nörotransmitter Bozukluklarında Klinik Yaklaşım

Kalıtsal Metabolik Hastalıklarda Hareket Bozuklukları, Dursun,Ali, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.20-29, 2020