Publications & Works

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

Sensory, voluntary, and motor postural control in children and adolescents with mucopolysaccharidosis

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.34, no.5, pp.583-589, 2021 (Journal Indexed in SCI) identifier identifier identifier

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

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.6, pp.721-728, 2020 (Journal Indexed in SCI) identifier identifier identifier

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

JOURNAL OF NEUROLOGY, vol.267, no.4, pp.1209-1210, 2020 (Journal Indexed in SCI) identifier identifier identifier

Oral health status of children with phenylketonuria

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.3, pp.361-365, 2020 (Journal Indexed in SCI) identifier identifier identifier

The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.32, no.10, pp.1049-1053, 2019 (Journal Indexed in SCI) identifier identifier identifier

Deoxyguanosine kinase deficiency: a report of four patients

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.30, no.6, pp.697-702, 2017 (Journal Indexed in SCI) identifier identifier identifier

Key features and clinical variability of COG6-CDG

MOLECULAR GENETICS AND METABOLISM, vol.116, no.3, pp.163-170, 2015 (Journal Indexed in SCI) identifier identifier identifier

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 genemutation.

Turkish Journal Of Pediatrics, vol.57, pp.388-393, 2015 (Journal Indexed in SCI Expanded)

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.57, no.10, pp.596-601, 2014 (Journal Indexed in SCI) identifier identifier identifier

A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy

JOURNAL OF CHILD NEUROLOGY, vol.28, no.11, pp.1505-1508, 2013 (Journal Indexed in SCI) identifier identifier

Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks

JOURNAL OF CHILD NEUROLOGY, vol.28, no.11, pp.1509-1512, 2013 (Journal Indexed in SCI) identifier identifier

Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

JIMD REPORTS: CASE AND RESEARCH REPORTS, 2011/1, vol.1, pp.17-21, 2011 (Journal Indexed in SCI) identifier identifier identifier

VITAMIN B6 AND B12 STATUS IN TURKISH CHILDREN WITH PHENYLKETONURIA

JOURNAL OF INHERITED METABOLIC DISEASE, vol.33, 2010 (Journal Indexed in SCI) identifier

Phenylketonuria in pediatric neurology practice: A series of 146 cases

JOURNAL OF CHILD NEUROLOGY, vol.21, no.11, pp.987-990, 2006 (Journal Indexed in SCI) identifier identifier identifier

Haematological findings in children with inborn errors of metabolism

JOURNAL OF INHERITED METABOLIC DISEASE, vol.29, no.5, pp.607-611, 2006 (Journal Indexed in SCI) identifier identifier identifier

Articles Published in Other Journals

Refereed Congress / Symposium Publications in Proceedings

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

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

Etilmelonik ensefalopati: vaka sunumu

XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Turkey, 26 - 30 April 2017

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

Fenilketonürili bireylerde beslenme ve diyet hasta destek programının değerlendirilmesi

XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Turkey, 26 - 30 April 2017, pp.148

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

Two cases with mucopolysaccharidosis type VII

12th Annual WORLD Symposium, California, United States Of America, 29 February - 04 March 2016, vol.117 identifier

Two adult siblings with progressive walking difficulty and visual disturbances

11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, United States Of America, 9 - 13 February 2015, vol.114 identifier

Books & Book Chapters