Publications & Works

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

Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

Journal of bone and mineral metabolism, vol.39, pp.598-605, 2021 (Journal Indexed in SCI) identifier identifier identifier

Two patients from Turkey with a novel variant in the GM2A gene and review of the literature

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.34, no.6, pp.805-812, 2021 (Journal Indexed in SCI) identifier identifier identifier

Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa

ANNALS OF NUTRITION AND METABOLISM, vol.76, no.4, pp.233-241, 2020 (Journal Indexed in SCI) identifier identifier identifier

Nutritional Status of Syrian Refugees in Early Adolescence Living in Turkey

JOURNAL OF IMMIGRANT AND MINORITY HEALTH, vol.22, no.6, pp.1149-1154, 2020 (Journal Indexed in SSCI) identifier identifier identifier

Vitamin D Levels and Bone Mineral Density in Inborn Errors of Metabolism Requiring Specialised Diets

JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, vol.29, no.12, pp.1207-1211, 2019 (Journal Indexed in SCI) Creative Commons License identifier identifier identifier

Hematologic Findings of Inherited Metabolic Disease: They are More Than Expected

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, vol.40, no.5, pp.355-359, 2018 (Journal Indexed in SCI) identifier identifier identifier

Audiologic evaluations of children with mucopolysaccharidosis

BRAZILIAN JOURNAL OF OTORHINOLARYNGOLOGY, vol.82, no.3, pp.281-284, 2016 (Journal Indexed in SCI) identifier identifier identifier

Two novel deletions in hypotonia-cystinuria syndrome

MOLECULAR GENETICS AND METABOLISM, vol.107, no.3, pp.614-616, 2012 (Journal Indexed in SCI) identifier identifier identifier

GENOTYPIC FEATURES OF 41 PATIENTS WITH GAUCHER DISEASE FROM TURKEY

JOURNAL OF INHERITED METABOLIC DISEASE, vol.35, 2012 (Journal Indexed in SCI) identifier

AN INFANTILE CASE OF ZELLWEGER SYNDROME PRESENTED WITH KABUKI-LIKE PHENOTYPE

GENETIC COUNSELING, vol.22, no.2, pp.217-220, 2011 (Journal Indexed in SCI) identifier identifier identifier

TWO NOVEL MUTATIONS IN TURKISH PATIENTS WITH SJVGREN LARSSON SYNDROME

JOURNAL OF INHERITED METABOLIC DISEASE, vol.34, 2011 (Journal Indexed in SCI) identifier

AN ADULT PATIENT WITH LATE DIAGNOSED LYSINURIC PROTEIN INTOLERANCE

JOURNAL OF INHERITED METABOLIC DISEASE, vol.34, 2011 (Journal Indexed in SCI) identifier

A NOVEL MUTATION IN A TURKISH PATIENT WITH THE INFANTILE FORM OF TAY-SACHS DISEASE

JOURNAL OF INHERITED METABOLIC DISEASE, vol.34, 2011 (Journal Indexed in SCI) identifier

NOVEL DELETION IN HYPOTONIA-CYSTINURIA SYNDROME

JOURNAL OF INHERITED METABOLIC DISEASE, vol.34, 2011 (Journal Indexed in SCI) identifier

The role of viral agents in aetiopathogenesis of acute rheumatic fever

CLINICAL RHEUMATOLOGY, vol.30, no.1, pp.15-20, 2011 (Journal Indexed in SCI) Sustainable Development identifier identifier identifier

HARDEROPORPHYRIA PHENOTYPE DUE TO A HOMOZYGOUS H237R MISSENSE MUTATION

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

Crisponi Syndrome: A New Case With Additional Features and New Mutation in CRLF1

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.24, pp.3237-3239, 2008 (Journal Indexed in SCI) identifier identifier identifier

Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide

JOURNAL OF INHERITED METABOLIC DISEASE, vol.31, pp.33, 2008 (Journal Indexed in SCI) identifier

The impact of inherited metabolic diseases on quality of life: A pilot study

JOURNAL OF INHERITED METABOLIC DISEASE, vol.31, pp.147, 2008 (Journal Indexed in SCI) identifier

Rapid screening of 10 common mutations in Turkish Gaucher patients using electronic DNA microarray

BLOOD CELLS MOLECULES AND DISEASES, vol.40, no.2, pp.246-247, 2008 (Journal Indexed in SCI) identifier identifier identifier

The first results of 18 months experience with lysosomal storage disease

JOURNAL OF INHERITED METABOLIC DISEASE, vol.30, pp.95, 2007 (Journal Indexed in SCI) identifier

Multisystem involvement: A rare and unusual presentation of GSD type IV

JOURNAL OF INHERITED METABOLIC DISEASE, vol.30, pp.60, 2007 (Journal Indexed in SCI) identifier

3-Methylcrotonylglycinuria in a family: Late and different clinical presentation

JOURNAL OF INHERITED METABOLIC DISEASE, vol.30, pp.40, 2007 (Journal Indexed in SCI) identifier

Incidence of osteoporosis in a metabolic unit

JOURNAL OF INHERITED METABOLIC DISEASE, vol.29, pp.159, 2006 (Journal Indexed in SCI) identifier

Articles Published in Other Journals

The Evaluation of Skeletal Manifestations in Patients with Gaucher Disease

JOURNAL OF PEDIATRIC RESEARCH, vol.8, no.3, pp.257-261, 2021 (Journal Indexed in ESCI) identifier

Citrullinemia with an Atypical Presentation: Paroxysmal Hypoventilation Attacks

JOURNAL OF PEDIATRIC NEUROSCIENCES, vol.13, no.2, pp.276-278, 2018 (Journal Indexed in ESCI) identifier identifier identifier

Giant bronchogenic cyst mimicking tension pneumothorax.

Asian cardiovascular & thoracic annals, vol.14, pp.244-6, 2006 (Refereed Journals of Other Institutions) identifier identifier

Karbonmonoksit Zehirlenmesinde Hiperbarik Oksijen Tedavisi İki Olgu Sunumu

TÜRKİYE KLİNİKLERİ J PEDİATR, vol.14, pp.220-222, 2005 (Other Refereed National Journals)

Refereed Congress / Symposium Publications in Proceedings

Triamterene-induced suppression of R227X premature termination codon in Fabry disease

16th Annual Research Meeting of the WORLDSymposium(TM), Florida, United States Of America, 10 - 14 February 2020, vol.129 identifier

Diyet tedavisine cevap veren HMG-CoA liyaz enzim eksikliği olan iki olgu

Hacettepe Beslenme ve Diyetetik Günleri IV. Mezuniyet Sonrası Eğitim Kursu, Ankara, Turkey, 27 - 29 June 2019

Screening of Twelve Lysosomal Storage Diseases with LC-MS/MS in Gazi University Hospital: The First Results of Validation.

INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS10 - 14 April 2019 Istanbul-Turkey, 10 - 14 April 2019

Cornelia de Lange Syndrome and Glycogen Storage Disease Together in a Patient

Internatıonal Inborn Errors Of Metabolısm And Nutrıtıon Congress, İstanbul, Turkey, 10 - 14 April 2019

Hyperinsulinemic Hypoglycemia: Think of GLUD1 Gene Mutation Leading To Hyperinsulinism/Hyperammonemia (HI/HA) Syndrome

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019

Growth Hormone Treatment: Reverses Catabolic Process in Inborn Errors of Metabolism

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019

Familial Hyperphosphatemic Tumoral Calcinosis in an Unusual Site

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019

A Very Rare Disease: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (Hhh) Syndrome

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019

Novel Mutation in FBP1 Gene Presenting with Recurrent Episodes of Vomiting in A Child

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019

Could Targeted Next Generation Sequencing Be A First Line Diagnostic Method for Lysosomal storage Diseases

INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS10 - 14 April 2019 Istanbul-Turkey, 10 - 14 April 2019

Novel Mutation in Two Siblings with Normouricemic Lesch Nyhan Syndrome

Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 April 2019

Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy

13th European Congress on Epileptology, Vienna, Austria, 26 - 30 August 2018, vol.59 identifier

Natural history data for young subjects with Sanfilippo syndrome type B (MPS IIIB)

We're Organizing Research for Lysosomal Diseases (WORLD) Symposium, California, United States Of America, 5 - 09 February 2018, vol.123 identifier

Renal İnvolvement in Fabry Disease

13.International Congress of Inborn Errors of Metabolism., Rio de Janeiro, Brazil, 5 - 08 September 2017

İnvestigation of LDLR Gene Mutations in Turkish Patients With Familial Hypercholesterolemia

13th International Congress of Inborn Errors of Metabolism - ICIEM 2017, 5 - 08 September 2017, vol.5 Creative Commons License

Karbonhidrat Metabolizması Bozuklukları

Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Güncelleme Toplantısı, Turkey, 1 - 04 June 2017

Tirozinemi İzlem ve Tedavi

Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Güncelleme Toplantısı, Turkey, 1 - 04 June 2017

THE HEMATOLOGIC FINDINGS OF INHERITED METABOLIC DISEASE; THEY ARE MORE THAN EXPECTED

22nd Congress of the European-Hematology-Association, Madrid, Spain, 22 - 25 June 2017, vol.102, pp.829-830 identifier

Lizozomal Depo Hastalıklarında Nörolojik Bulgular ve Tedavileri

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

Mukopoli̇sakkari̇dozlar: Tanı ve Tedavi̇de Güncel YaklaşImları

39. Pediatri Günleri ve 18. Pediatri Hemşireliği Günleri, Turkey, 2 - 05 April 2017

Yenidoğanda Tarama Testleri

İlk 1000 gün 5. Kongresi, Turkey, 19 - 22 March 2017

In vitro translational readthrough by gentamicin and geneticin improves GLA activity in Fabry disease

13th Annual Research Meeting on We're Organizing Research for Lysosomal Diseases (WORLD), California, United States Of America, 13 - 17 February 2017, vol.120 identifier

ÇOCUKLARDA VİTAMİN VE MİNERAL DESTEĞİ

60. Türkiye Milli Pediatri Kongresi, Antalya, Turkey, 9 - 13 November 2016

Early initiation of investigational enzyme replacement therapy in a 9 month old infant with mucopolysaccharidosis type VII

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016

Evaluation of chitotriosidase and high sensitivity c reactive protein levels in mucopolysaccaridosis

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016

Type 1 hypersensitivity reaction and desensitization with Elosulphase alpha

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016

Bone mineral density and vitamin D status in inborn errors of metabolism

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016

Do cytokine levels play a role in pathogenesis of mucopolysaccaridosis patients

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016

The specificity and sensitivity of next generation semiconductor DNA sequencing in detecting mitochondrial DNA heteroplasmy

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016

BonemineradensityandvitaminDstatusininbornerrorsofmetabolism

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016

Identification of a novel mutation in Turkish infant with early onset monocarboxylatetransporter1 MCT1 deficiencyasacauseofrecurrent ketoacidosi

SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 September 2016, vol.39, pp.35-284

LAL enzim eksikliği

11. Ulusal Çocuk Gastroenteroloji Hepatoloji ve Beslenme Kongresi, Turkey, 4 - 07 May 2016

Patient with Niemann Pick type C presenting with lymphatic in volvement with Niemann Pick cells in the left jaw

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, France, 1 - 04 September 2015

Cobalamin C disease with hypopigmented cutaneousfindings A unique case

annual symposium of the society for the study of inborn errors of metabolism, Lyon, France, 1 - 04 September 2015, vol.38, pp.319

Sol çenede Lenfatik tutlum ile giden Niemann Pick tip C olgusu

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

Lizozomal depo hastalıklarına yaklaşım

2. Marmara Pediatri Kongresi, Turkey, 12 - 14 February 2015

The results of enzyme studies in the diagnosis of lysosomal diseases: 8 years experience of Gazi University, Ankara, Turkey

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

Importance of family screening in Fabry disease: Reaching the bottom of the iceberg

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

COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE

31st International Epilepsy Congress, İstanbul, Turkey, 5 - 09 September 2015, vol.56, pp.175 identifier

PREVALENCE OF FABRY DISEASE AMONG HEMODIALYSIS PATIENTS IN TURKEY

50th European-Renal-Association - European-Dialysis-and-Transplant-Association Congress, İstanbul, Turkey, 18 - 21 May 2013, vol.28, pp.321 identifier

Three siblings with ext1 CDG

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

TWO NOVEL MUTATIONS IN TWO PATIENTS WITH MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY

11th International Conference of Inborn Errors of Metabolism, California, United States Of America, 29 August - 02 September 2009, vol.98, pp.52 identifier

Books & Book Chapters

Glikojen Depo Hastalıkları

in: TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editor, GÜNEŞ TIP KİTABEVLERİ, Ankara, pp.1107-1111, 2020

Tirozin Metabolizması Bozuklukları

in: TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editor, GÜNEŞ TIP KİTABEVLERİ, Ankara, pp.1144-1148, 2020

Keton Cisim Yapım ve Yıkım Bozuklukları

in: TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editor, GÜNEŞ TIP KİTABEVLERİ, Ankara, pp.1132-1135, 2020

Yağ Asidi Oksidasyon Bozuklukları

in: TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editor, GÜNEŞ TIP KİTABEVLERİ, Ankara, pp.1126-1130, 2020

Mitokondriyal Hastalıklar

in: TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editor, GÜNEŞ TIP KİTABEVLERİ, Ankara, pp.1136-1139, 2020

Fruktoz Metabolizması Bozuklukları

in: TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editor, GÜNEŞ TIP KİTABEVLERİ, Ankara, pp.1122-1123, 2020

Metionin Metabolizması Bozuklukları

in: TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editor, GÜNEŞ TIP KİTABEVLERİ, Ankara, pp.1156-1158, 2020

Vitaminler

in: TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editor, GÜNEŞ TIP KİTABEVLERİ, Ankara, pp.30-44, 2020

Dı̇kkat Eksı̇klı̇ğı̇ Ve Hı̇peraktı̇vı̇te Bozukluğunda Nörometabolı̇k Değerlendı̇rme

in: Dı̇kkat Eksı̇klı̇ğı̇ Ve Hı̇peraktı̇vı̇te Bozukluğu, Şebnem Soysal, Editor, Nobel, pp.483-488, 2019

Normal Çocuklukta Beslenme ve Beslenme Bozuklukları

in: Lange - Current Tanı ve Tedavi Pediatri, Prof.Dr. Enver Hasanoğlu Prof.Dr. Aysun Bideci Prof.Dr. Elif N. Özmert Prof.Dr. Sevcan A. BAKKALOĞLU EZGÜ, Editor, ema tıp kitapevi, pp.281-308, 2018

Peroksizomal Bozukluklar

in: Yurdakök Pediatri, Murat Yurdakök, Editor, Güneş Tıp Kitapevleri, Ankara, pp.1813-1820, 2017