Journal articles indexed in SCI, SSCI, and AHCI
Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report
Endocrine, Metabolic and Immune Disorders - Drug Targets
, vol.23, no.2, pp.230-234, 2023 (SCI-Expanded)



Hyperinsulinemic Hypoglycemia in Congenital Disorder of Glycosylation Type-1a (CDG-1a)
HORMONE RESEARCH IN PAEDIATRICS
, vol.90, pp.362-363, 2018 (SCI-Expanded)

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 genemutation.
Turkish Journal Of Pediatrics
, vol.57, pp.388-393, 2015 (SCI-Expanded)
PROPIONIC ACIDEMIA PRESENTING WITH PERSISTENT PULMONARY HYPERTENSION IN TWO NEONATES
JOURNAL OF INHERITED METABOLIC DISEASE
, vol.35, 2012 (SCI-Expanded)

Articles Published in Other Journals
Infant Acute Lymphoblastic Leukemia with Atypical Presentation
YAMAN BAJİN H. İ., YILDIZ Y., akın ş., AYTAÇ EYÜPOĞLU Ş. S., ÜNAL CANGÜL Ş., KUŞKONMAZ B. B., et al.
Acta Medica
, vol.50, no.4, pp.57-59, 2019 (Peer-Reviewed Journal)
Mukopolisakkaridozlarda ortopedik sorunlar
TOTBİD Dergisi
, vol.15, no.4, pp.303-310, 2016 (Peer-Reviewed Journal)
Kalıtsal Metabolik Hastalıklarda Dental Bulgular
Türkiye Klinikleri Çocuk Diş Hekimliği - Özel Konular
, vol.2, no.2, pp.28-33, 2016 (Peer-Reviewed Journal)
Rizomelik kondrodisplazi punktata: Bir vaka takdimi
Çocuk Sağlığı ve Hastalıkları Dergisi
, vol.56, no.4, pp.188-191, 2013 (Scopus)
Papers Presented at Peer-Reviewed Scientific Conferences
Lizinürik Protein İntoleransının Nadir Renal Tutulumu: Membranoproliferatif Glomerülonefrit
5. ÇOCUK NEFROLOJİ E-OLGU PANAYIRI, Online, Turkey, 4 - 05 December 2020, pp.34, (Full Text)
Listening Parents Caring A Child With Phenylketonuria
3rd International Developmental Pediatrics Association Congress, 9 - 12 December 2019, (Summary Text)
Fenilketonüri ile Yaşamak: Anne Ve Babaların Penceresinden
63. Türkiye Milli Pediatri Kongresi, Turkey, 30 October - 03 November 2019, (Summary Text)
Hyperphenylalaninemia due to novel JCDNA12 mutation
SSIEM 2019: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rotterdam, Netherlands, 3 - 06 September 2019, vol.42, pp.324, (Summary Text)
Mukopolisakkaridozlu (MPS) Çocuklarda Otomatik ve İstemli Motor Kontrol Performanslarının İncelenmesi:Pilot Çalışma
13.Uluslararası Kulak Burun Boğaz ve Baş Boyun Cerrahisi Kongresi, 5 - 07 April 2018, pp.52, (Summary Text)
Biotin May Lead To High Free Thyroxine Levels in Some Immunoassay Methods
69th AACC ANNUAL SCIENTIFIC MEETING, SAN DIEGO, United States Of America, 30 July - 03 August 2017, vol.63, (Summary Text)
A rare cause of cutaneous ulceration: Prolidase deficiency
26.eadv CONGRESS, 13 - 17 September 2017, (Summary Text)
Hyperphenylalaninemia in Argininosuccinic Aciduria: A case report.
13th International Congress of Inborn Errors of Metabolism., Rio-De-Janeiro, Brazil, 5 - 08 September 2017, vol.5, (Summary Text)
Oxysterol levels in Organic Acidemia patients: Preliminary results.
13th International Congress of Inborn Errors of Metabolism., Rio-De-Janeiro, Brazil, 5 - 08 September 2017, vol.5, (Summary Text)
Acute Metabolic Decompensations of Branched-Chain Organic Acidemias in the Pediatric Emergency Department: Clinical Presentation and Outcomes
13th International Congress of Inborn Errors of Metabolism, 5 - 08 September 2017, (Summary Text)
Three-year experience of pediatric physicians with adult inpatient consultations
13th International Congress of Inborn Errors of Metabolism (ICIEM), Rio de Janeiro, Brazil, 5 September - 08 May 2017, (Summary Text)
Erişkinlerde kalıtsal metabolik hastalıklar: yatan hasta konsültasyonları ile üç yıllık deneyim
XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Turkey, 26 - 30 April 2017, (Summary Text)
Etilmelonik ensefalopati: vaka sunumu
XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Turkey, 26 - 30 April 2017, (Summary Text)
Tedavi Almayan Hiperfenilalaninemili Çocuklarda Nörokognitif Fonksiyonların Değerlendirilmesi: İlk Sonuçlar
14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Turkey, 26 - 30 April 2017, (Summary Text)
Fenilketonürili bireylerde beslenme ve diyet hasta destek programının değerlendirilmesi
XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.148, (Summary Text)
Fenilketonürili bireylerin diyetle fenilalanin ve protein alımları: Önerilere uyum nasıldır?
XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.152, (Summary Text)
Fenilketonürili bireylerde Türkiye’ye Özgü Beslenme Rehberi’ne göre enerji ve bazı besin ögeleri alımının değerlendirilmesi
XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.151, (Summary Text)
Fenilketonürili bireylerde diyet enerji ve protein alımlarının antropometrik ölçümlere etkisi var mıdır?
XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.149, (Summary Text)
Fenilketonürili bireylerde besin gruplarının enerji, protein ve fenilalanin alımına katkısı
XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.150, (Summary Text)
presentation of classical galaktosemia with positive neborn screening
MEMG 13, 26 - 30 October 2016, (Summary Text)
A27 Prenatal findings and autopsy examination in a newborn with multiple acyl CoA dehydrogenase deficiency Abstract Book A27 p 85
13th Middle East Metabolic Group Meeting, 6, Amman-Jordan, 28 - 30 October 2016, pp.85, (Full Text)
adult form metachormatic leuucodistrohy caused by a novel mutation
MEMG 13, 26 - 30 October 2016, (Summary Text)
a rare lysosomal storage disease
MEMG 13, 26 - 30 October 2016, (Summary Text)
Preliminary results of the study relevant to evaluating neurocognitive functions of untreated children with hyperphenylalaninemia
2016 annual multidisciplinary European Phenylketanuria Symposium, 7 - 08 October 2016, (Summary Text)
Optic neuropathy a rare late complication in methylmalonicacidemia
SSIEM ROMA, 6 - 09 September 2016, (Summary Text)
Late diagnosed phenylketonuria in an eight year old boy with dyslexia and attention deficit
SSIEM ROMA, 6 - 09 September 2016, (Summary Text)
Short term outcome of surgical correction of genu valgum in fourpatients with mucopolysaccharidosis type IV
SSIEM RDMA, 6 September - 09 June 2016, (Summary Text)
Phenotypic variability and clinical biochemical histological andmolecular genetic characteristics of 17 patients with multipleacyl CoA dehydrogenase deficiency
SSIEM ROMA, 6 - 09 September 2016, (Summary Text)
Adult mucopolysaccharidosis type VI patient with severe cervicalcord compression at diagnosis
SSIEM roma, 6 - 09 September 2016, (Summary Text)
argininosüccinic acidüria associated with pancreatitis
SSIEM, 6 - 09 September 2016, (Summary Text)
Prenatal findings and autopsy examination in a newborn with multipleacyl CoA dehydrogenase deficiency
SSIEM ROMA, 6 - 09 September 2016, (Summary Text)
the fist case of phenylketonuria with tyrosinemai type III
SSIEM ROMA, 6 - 09 September 2016, (Summary Text)
Mukopolisakkaridozlu hastaların solunum kas kuvveti ve egzersiz kapasitelerinin değerlendirilmesi
Türk Toraks Derneği 19.Yıllık Kongresi Bildiri, Turkey, 6 - 10 April 2016, pp.191, (Summary Text)
Hyperlysinemia in a child and his mother
SSIEM, 4 - 07 September 2015
A rare metabolic disease succinic semialdehyde dehydrogenase deficiency
SSIEM, 4 - 07 September 2015
Mutation screening study in Turkish patients with L 2 hydroxyglutaric aciduria
SSIEM, 4 - 07 September 2015
Two Cases with Mucopolysaccharidosis Type VII Sly s Syndrome
SSIEM, 4 - 07 September 2015
Coexistence of phenylketonuria and primary adrenal insufficiency
SSIEM, 4 - 07 September 2015
Türk Hastalarda Biyotinidaz Gen Mutasyonlarının Moleküler Karakterizasyonu
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Turkey, 14 - 18 April 2015, (Summary Text)
Türk İzovalerik Asidemi Hastalarında Genotip Fenotip İlişkisi
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Turkey, 14 - 18 April 2015, (Summary Text)
Klasik Glutarik Asidüri Tip I GA I Bulguları Göstermeyen Bir Ailede GCDH Gen Defekti
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Turkey, 14 - 18 April 2015
AUDIOLOGICAL OUTCOMES OF MPS II: BEFORE AND AFTER ENZYME REPLACEMENT THERAPY
JOURNAL OF INHERITED METABOLIC DISEASE, 20 October 2012, vol.35, pp.145, (Summary Text)
Mukopolisakkaridozlu olgularda fonksiyonel egzersiz kapasitesi ağrı ve postural bozukluk şiddeti
14. Fizyoterapide Gelişmeler Kongresi, Turkey, 26 - 28 April 2012, vol.23, pp.56
Üre döngüsü bozukluklarına ikincil neonatal hiperamonemik koma tedavisinde ammonul sodyum benzoat ve sodyum fenilasetat kullanımı
20. Ulusal Neonatoloji Kongresi (UNEKO-20), Turkey, 15 - 18 April 2012
A novel mutation in DGUOK gene in a Turkish newborn
J Inherit Metab Dis 2010;33(1):S81, P-229. (SSIEM, Annual Symposium, 2010, İstanbul, Turkey)., İstanbul, Turkey, 31 August 2010, (Summary Text)
Books
Nörotransmitter Bozukluklarında Klinik Yaklaşım
in: Kalıtsal Metabolik Hastalıklarda Hareket Bozuklukları, Dursun,Ali, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.20-29, 2020
Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.
in: JIMD Reports Case and Research Reports 2011 3, , Editor, SPRINGER, 2011