Publications & Works

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

Articles Published in Other Journals

Sekonder Hiperlipidemiler

Türkiye Klinikleri Pediatri Dergisi, vol.23, no.1, pp.22-28, 2014 (Other Refereed National Journals)

Kalıtsal Metabolik Hastalıklarda Beslenme İlkeleri

Türkiye Klinikleri Pediatrik Bilimler Dergisi, vol.10, no.3, pp.95-104, 2014 (Other Refereed National Journals)

Dislipidemilerde Beslenme Özellikleri

Türkiye Klinikleri Pediatrik Bilimler Dergisi, vol.10, no.3, pp.34-43, 2014 (Other Refereed National Journals)

Çocuklarda Hiperlipidemi Taraması

Türkiye Klinikleri Pediatri Dergisi, vol.22, no.4, pp.171-177, 2013 (Other Refereed National Journals)

Alfa Mannosidoz

Lizozomal Depo Hastalıkları Dergisi, vol.4, no.1, pp.32-34, 2012 (Other Refereed National Journals)

Vitamin D Osteoporozis

Türkiye Klinikleri Pediatrik Bilimler Dergisi, vol.8, no.2, pp.52-57, 2012 (Other Refereed National Journals)

Lizozomal Depo Hastalıklarının Romatolojik Bulguları

Lizozomal Depo Hastalıkları Dergisi, vol.4, no.1, pp.9-13, 2012 (Other Refereed National Journals)

An Interesting Case of Fabry Disease Presented with Unexplained Abdomen Pain

Lizozomal Depo Hastalıkları Dergisi, vol.3, no.1, pp.21-24, 2011 (Other Refereed National Journals)

Refereed Congress / Symposium Publications in Proceedings

Çocuklarda Vitamin ve Mineral Desteği

63. Türkiye Milli Pediatri Kongresi, Turkey, 30 October - 03 November 2019

Metabolik Hastalık Ne Zaman Düşünelim?

63. Türkiye Milli Pediatri Kongresi, Turkey, 30 October - 03 November 2019

New Treatment Modalities in Glycogen Storage Disorders: MCT, 3-oh-butyrate, Ketogenic Diet

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, 10 - 14 April 2019

Clinical and Molecular Characterization of 11 Turkish Patients with PMM2-CDG

INTERNATIONAL INBORN ERRORS OF METABOLISM AND NUTRITION CONGRESS, 10 - 14 April 2019

Tip 1 Gaucher Hastalığı: Olgu sunumu

62. Milli pediatri kongresi, Turkey, 14 - 18 November 2018

Konjenital lober amfizem

61. Milli pediatri kongresi, Antalya, Turkey, 15 - 19 November 2017

Letal VLCADD Olgu Sunumu

Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015

Kemik İliği Nakli Yapılan X ALD Olgusu

Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015

Glutarik asidüri tip 2 Olgu sunumu

XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015

Fanconi Bickel Sendromu Olgu sunumu

Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015

Herediter fruktoz intoleransı tanısı alan sekonder CDG olgusu

XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015

Fish odour sendromu Trimetilaminüri Olgu sunumu

Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015

CDG TİP 2x Olgu sunumu

CDG TİP 2x: Olgu sunumu., Turkey, 14 - 18 April 2015

Nonketotik Hiperglisinemi Hastalarında BOS Glisin Serum Glisin Oranı

XIII. ULUSAL METABOLİK HASTALIKLAR VE BESLENME KONGRESİ, ADANA, Turkey, 14 - 18 April 2015

Fruktoz 1 6 bifosfataz Eksikliği Yeni Mutasyon Saptanan Olgu

Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015

COG 6 CDG Tanısı Alan Olgu Sunumu

Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015

Bilinmeyen genetik metabolik nörometabolik hastalıklarda CDG insidansı

XIII. ULUSAL METABOLİK HASTALIKLAR VE BESLENME KONGRESİ, ADANA, Turkey, 14 - 18 April 2015

Obez Çocuklarda Plazma Chitotriosidaz Aktivitesi

XIII. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015

Karbamil fosfat sentetaz eksikliği tanısı alan olgu sunumu

Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Turkey, 14 - 18 April 2015

Glikojen depo hastalığı tip 1 hastalarımızın genotip fenotip özellikleri

XIII. ULUSAL METABOLİK HASTALIKLAR VE BESLENME KONGRESİ, Turkey, 14 - 18 April 2015

Is premedication necessary before desensitization in an infant with Pompe diseasehaving alglucosidase alpha anaphylaxis

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2-5 September 2014, 2 - 05 September 2014

Neonatal onset VLCADD with a novel mutation

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2-5 September 2014, 2 - 05 September 2014

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC gene mutation by next generation DNA sequencing

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2-5 September 2014, 2 - 05 September 2014

Niemann Pick Type C disease with NPC2 gene mutation

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2-5 September 2014., 2 - 05 September 2014

When a common symptom of a neonate becomes an unusual diagnosis A case report of HMG CoA lyase deficiency

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2-5 September 2014., 2 - 05 September 2014

Secondary hemophagocytosis in propionic acidemia

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2-5 September 2014., 2 - 05 September 2014

A case of carbamoylphosphate sythetase 1 deficiency presenting at second day of life

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2-5 September 2014., 2 - 05 September 2014

Plasma chitotriosidase activity in obese children

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, 2 – 5 September 2014, Innsbruck, Austria, 2 - 05 September 2014

Fish odour syndrome trimetylaminuria Case report

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2-5 September 2014., 2 - 05 September 2014

Treatment of X linked childhood cerebral adrenoleukodystrophy by the use of bone marrow transplantation

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2-5 September 2014, 2 - 05 September 2014

COG6 CDG fourth family and a novel mutation

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2-5 September 2014., 2 - 05 September 2014

Mutations in BTD gene causing biotinidase deficiency a regional report

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2-5 September 2014., 2 - 05 September 2014

Fanconi Bickel syndrome A new case from Turkey

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Innsbruck, 2-5 September 2014., 2 - 05 September 2014

A rare metabolic Disease Glutaric aciduria type 2

7th World Congress on Pediatric Critical Care., 4 - 07 May 2014

Gaucher Hastalığı tip 2

IV. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Antalya, Turkey, 17 - 20 April 2014

Allerjik desensitizasyon ile alglucosidase alfa tedavisi uygulanan pompe olgusu

IV. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Antalya, Turkey, 17 - 20 April 2014

Olgu sunumlarıyla Lizozomal hastalıklarda psikometrik değerlendirme

IV. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Antalya, Turkey, 17 - 20 April 2014

Mongol lekeleri her zaman masum mudur

IV. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Antalya, Turkey, 17 - 20 April 2014

Mukolipidoz Tip II Olgu sunumu

IV. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Antalya, Turkey, 17 - 20 April 2014

Alpha mannosidosis a report of 2 siblings

12th International Congress of Inborn Errors of Metabolism (ICIEM 2013). 3rd – 6th September, 2013, Barcelona, İspanya., 3 - 06 September 2013

PGM1 CDG a surprising congenital disorder of glycosylation

12th International Congress of Inborn Errors of Metabolism (ICIEM 2013). 3rd – 6th September, 2013, Barcelona, İspanya., 3 - 06 September 2013

BCS1L gene mutation causing gracile syndrome and complex III deficiency case report

12th International Congress of Inborn Errors of Metabolism (ICIEM 2013), Barcelona, İspanya., 3 - 06 September 2013

MLASA myopathy lactic acidosis sideroblastic anemia case report

12th International Congress of Inborn Errors of Metabolism (ICIEM 2013), Barcelona, İspanya., 3 - 06 September 2013

Use of miglustat in four children with infantile onset Niemann Pick disease type C

12th International Congress of Inborn Errors of Metabolism (ICIEM 2013). 3rd – 6th September, 2013, Barcelona, İspanya., 3 - 06 September 2013

Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation p Gly116Val in ANTXR2

12th International Congress of Inborn Errors of Metabolism (ICIEM 2013). 3rd – 6th September, 2013, Barcelona, İspanya., 3 - 06 September 2013

MLASA mitokondriyal laktik asidoz sideroblastik anemi Olgu sunumu

Uluslararası Katılımlı XII. Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Eskişehir, Turkey, 1 - 05 May 2013

Van Der Knaap Hastalığı Olgu Sunumu

Uluslararası Katılımlı XII. Metabolik Hastalıklar ve Beslenme Kongresi. 01-04 Mayıs 2013, Eskişehir, Turkey, 1 - 04 May 2013

PGM1 CDG Yeni tanımlanmış doğumsal glikozilasyon bozukluğu

Uluslararası Katılımlı XII. Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Eskişehir, Turkey, 1 - 04 May 2013

BCS1L gen mutasyonuna bağlı GRACILE sendromu Olgu sunumu

Uluslararası Katılımlı XII. Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Eskişehir, Turkey, 1 - 04 May 2013

Glikojen depo hastalığı tip 1 tanısı ile izlenen çocuklarda yaşam kalitesi

Uluslararası Katılımlı XII. Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Eskişehir, Turkey, 1 - 04 May 2013

Glikojen depo hastalığı tip 1 hastalarında plazma chitotriosidaz seviyesi

Uluslararası Katılımlı XII. Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Eskişehir, Turkey, 1 - 04 May 2013

Alfa mannosidoz tanısı alan iki kardeş vaka takdimi

Uluslararası Katılımlı XII. Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Eskişehir, Turkey, 1 - 04 May 2013

Deoxyguanosine Kinaz eksikliği Olgu sunumu

Uluslararası Katılımlı XII. Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Eskişehir, Turkey, 1 - 04 May 2013

Güneydoğu Anadolu Bölgesinde tanı alan klasik galaktozemili hastaların klinik bulguları ve mutasyon sonuçları

Uluslararası Katılımlı XII. Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Eskişehir, Turkey, 1 - 04 May 2013

Apheresis inducible cytokin pattern change in children with homozygous familial hypercholesterolemia

14th International Congress of the World Apheresis Association and 7th National Congress of Turkish Society of Apheresis, 13 - 15 September 2012

The subclinical neurological findings in type I Gaucher disease

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

Continuous glucose monitoring in children with glycogen storage disease type I

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

Genotypic features of 41 patients with Gaucher disease from Turkey

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

Lysosomal storage diseases in our country results of last six years

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

Home sleep study characteristics in patients with mucopolysaccharidosis

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

An extremely rare case Osteosclerotic metaphyseal dysplasia

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

DGUOK related mitochondrial depletion syndrome in a child with an early diagnosis of GSDs

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

Mucopolysaccharıdosıs Effects of enzyme replacement therapy in 27 children with MPS I II and VI

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

Desensitization of an infant with pompe disease and a history of anaphylaxis to alglucosidase alfa

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

Study of quality of life for children with glycogen storage disease type I and their parents

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

Bone metabolism in patients affected by Gaucher disease

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

A child with megalencephalic leukoencephalopathy with subcortical cysts with an early diagnosis of Canavan disease

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

A case of pyruvate carboxylase deficiency with new neuroimaging features

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 4 - 07 September 2012

Mukopolisakkaridoz Tip I II VI tanılı vakalarımızın evde uyku testi bulguları

III. ULUSLARARASI KATILIMLI LİZOZOMAL DEPO HASTALIKLARI KONGRESİ, Cyprus (Kktc), 26 - 29 April 2012

Lizozomal depo hastalıklarının tanısında enzim sonuçlarımız

III.ULUSLARARASI KATILIMLI LİZOZOMAL DEPO HASTALIKLARI KONGRESİ, Turkey, 26 - 29 April 2012

Tip 1 Gaucher Hastalarında Subklinik Nörolojik Bulgular

III. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, KIBRIS, Cyprus (Kktc), 26 - 29 April 2012

Gaucher Hastalarında Kemik Metabolizmasının Değerlendirilmesi

III.ULUSLARARASI KATILIMLI LİZOZOMAL DEPO HASTALIKLARI KONGRESİ, Turkey, 26 - 28 April 2012

A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Geneva, Switzerland, 30 August - 02 September 2011

An unusual presentation of mucopolysaccharidosis VI with a novel mutation

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Geneva, Switzerland, 30 August - 02 September 2011

Canavan disease Case report

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Geneva, Switzerland, 30 August - 02 September 2011

Three siblings with EXT 1 CDG

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Geneva, Switzerland, 30 August - 02 September 2011

Outcomes of enzyme replacement therapy for mucopolysaccharidosis type VI Gazi University experience

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Geneva, Switzerland, 30 August - 02 September 2011

Konjenital glikozilasyon defekti Ix Olgu sunumu

Uluslararası Katılımlı XI. Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, İzmir., Turkey, 14 - 16 April 2011

Canavan Hastalığı Olgu sunumu

Uluslararası Katılımlı XI. Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, İzmir, Turkey, 14 - 16 April 2011

Hypercalcemia in glycogen storage disease type I patients of Turkish origin

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Istanbul, Turkey, 31 August - 03 September 2010

N Carbamylglutamate Treatment For Acute Neonatal Hyperammonaemia In Isovaleric Acidemia

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Istanbul, Turkey, 31 August - 03 September 2010

Gaucher Hastalığı ve Gebelik

2. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Turkey, 29 - 30 April 2010

L 2 Hidroksi Glutarik Asidüri 5 vakanın takdimi

53. Türkiye Milli Pediatri Kongresi, Muğla, Turkey, 21 - 25 October 2009

Gaucher Tip 2 Olgu sunumu

53. Türkiye Milli Pediatri Kongresi, Muğla, Turkey, 21 - 25 October 2009

CblA eksikliğine bağlı metil malonik asidüri

53. Türkiye Milli Pediatri Kongresi, Muğla, Turkey, 21 - 25 October 2009

Fabry hastalarında renal tutulum ve aile taramasının önemi

1. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Ankara, 16-17 Ekim 2008, Turkey, 16 - 17 October 2008

Renal involvement in Fabry disease clinical importance of family check

3. Southeast european pediatric nephrology working group meeting(SEPNWG) and 5th Turkish National Pediatric Nephrology Congress, Kapodokya, Turkey, 9 - 12 October 2008

Kusma ve kronik ishal ile seyreden bir yaygın değişken immun yetmezlik olgusu

Türkiye Milli Pediatri Dernegi 2. Kıs Zirvesi, 2008, Erzurum, Turkey, 6 - 08 March 2008 Sustainable Development

Ailesel Tip 1 hiperlipidemili bi rolgu sunumu

Türkiye Milli Pediatri Dernegi 2. Kıs Zirvesi, 2008, Turkey, 6 - 08 March 2008

9 yasında bir erkek lupus olgusu

Türkiye Milli Pediatri Dernegi 2. Kıs Zirvesi, 2008, Erzurum, Turkey, 6 - 08 March 2008

Books & Book Chapters

Hiperamonyemi

in: Bütüncül Tıp(Birinci Basamakta ve Aile Hekimliğinde Güncel Tanı-Tedavi), , Editor, Ankara Nobel Tıp Kitabevleri Ltd. Şti, Ankara, pp.2361-2391, 2019