Publications & Works

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

A CASE OF GLYCOGEN STORAGE DISEASE TYPE 1a MIMICKING FAMILIAL CHYLOMICRONEMIA SYNDROME

BALKAN JOURNAL OF MEDICAL GENETICS, vol.24, no.1, pp.103-105, 2021 (Journal Indexed in SCI) Creative Commons License 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

A new NBIA patient from Turkey with homozygous C19ORF12 mutation

ACTA NEUROLOGICA BELGICA, vol.119, no.4, pp.623-625, 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

Secondary Hemophagocytosis in Propionic Acidemia

IRANIAN JOURNAL OF PEDIATRICS, vol.25, no.3, 2015 (Journal Indexed in SCI) Creative Commons License identifier identifier

Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

HUMAN MUTATION, vol.35, no.4, pp.424-433, 2014 (Journal Indexed in SCI) identifier identifier identifier

Rhabdomyolysis and acute kidney injury in two children: Questions

PEDIATRIC NEPHROLOGY, vol.28, no.6, pp.899-902, 2013 (Journal Indexed in SCI) identifier identifier

A rare case of severe lactic acidosis in a preterm infant: lack of thiamine during total parenteral nutrition

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.24, pp.843-845, 2011 (Journal Indexed in SCI) identifier identifier 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

Articles Published in Other 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

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

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

A Novel Rars2 Mutation in Two Siblings with Microcephaly, Seizures and Liver Involvement

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

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

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

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

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

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

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

RENAL INVOLMENT IN FABRY DİSEASE

14 th middle east metabolic group (MEMG) meeting Athens GREECE, Atina, Greece, 9 - 11 February 2018

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

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

Evaluation of vitamin D levels in paediatric cancer patients

48th congress of the International Society of Paediatric Oncology (SIOP), Dublin, Ireland, 19 - 22 October 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

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

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

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

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

BonemineradensityandvitaminDstatusininbornerrorsofmetabolism

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

Citrullinemia with an Atypical Presentation Paroxsymal Hypoventilation Attacks

14th International Child Neurology Congress 1–5 May 2016 Amsterdam, the Netherlands., 1 - 05 May 2016, pp.223-224

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

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

Sol çenede Lenfatik tutlum ile giden Niemann Pick tip C olgusu

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

Isovaleric acidemia and Niemann Pick disease type C coexistence and new mutation for Niemann Pick disease type C

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

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

Books & Book Chapters

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

Mitokondriyal Hastalıklar

in: Yurdakök Pediatri, Murat Yurdakök, Editor, Güneş Tıp Kitapevi, Ankara, pp.1779-1790, 2017

Yoğurt ve Laktoz İntoleransı

in: YoğurtLezzetin ve Sağlığın Öyküsü, Sevinç Yücecan, Editor, Matsis Matbaa, İstanbul, pp.107-1114, 2015