Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Nutritional Status of Syrian Refugees in Early Adolescence Living in Turkey

JOURNAL OF IMMIGRANT AND MINORITY HEALTH, cilt.22, ss.1149-1154, 2020 (SSCI İndekslerine Giren Dergi) identifier identifier identifier

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

ANNALS OF NUTRITION AND METABOLISM, cilt.76, ss.233-241, 2020 (SCI İndekslerine Giren Dergi) 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, cilt.29, ss.1207-1211, 2019 (SCI İndekslerine Giren Dergi) Creative Commons License identifier identifier identifier

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

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.40, ss.355-359, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Audiologic evaluations of children with mucopolysaccharidosis

BRAZILIAN JOURNAL OF OTORHINOLARYNGOLOGY, cilt.82, ss.281-284, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

NEW ENGLAND JOURNAL OF MEDICINE, cilt.371, ss.1900-1907, 2014 (SCI İndekslerine Giren Dergi) Creative Commons License identifier identifier identifier

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.34, ss.225-231, 2011 (SCI İndekslerine Giren Dergi) Creative Commons License identifier identifier identifier

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

GENETIC COUNSELING, cilt.22, ss.217-220, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

The role of viral agents in aetiopathogenesis of acute rheumatic fever

CLINICAL RHEUMATOLOGY, cilt.30, ss.15-20, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

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

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ss.3237-3239, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

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

BLOOD CELLS MOLECULES AND DISEASES, cilt.40, ss.246-247, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Vitamin D intoxication and hypercalcaemia in an infant treated with pamidronate infusions

EUROPEAN JOURNAL OF PEDIATRICS, cilt.163, ss.163-165, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

Citrullinemia with an Atypical Presentation: Paroxysmal Hypoventilation Attacks

JOURNAL OF PEDIATRIC NEUROSCIENCES, cilt.13, ss.276-278, 2018 (ESCI İndekslerine Giren Dergi) identifier identifier identifier

Giant bronchogenic cyst mimicking tension pneumothorax.

Asian cardiovascular & thoracic annals, cilt.14, ss.244-6, 2006 (Diğer Kurumların Hakemli Dergileri) identifier identifier

Karbonmonoksit Zehirlenmesinde Hiperbarik Oksijen Tedavisi İki Olgu Sunumu

TÜRKİYE KLİNİKLERİ J PEDİATR, cilt.14, ss.220-222, 2005 (Diğer Kurumların Hakemli Dergileri)

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

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

16th Annual Research Meeting of the WORLDSymposium(TM), Florida, Amerika Birleşik Devletleri, 10 - 14 Şubat 2020, cilt.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, Türkiye, 27 - 29 Haziran 2019

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

Internatıonal Inborn Errors Of Metabolısm And Nutrıtıon Congress, İstanbul, Türkiye, 10 - 14 Nisan 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 Nisan 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 Nisan 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 Nisan 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 Nisan 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 Nisan 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 Nisan 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 Nisan 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 Nisan 2019

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

We're Organizing Research for Lysosomal Diseases (WORLD) Symposium, California, Amerika Birleşik Devletleri, 5 - 09 Şubat 2018, cilt.123 identifier

Renal İnvolvement in Fabry Disease

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

İnvestigation of LDLR Gene Mutations in Turkish Patients With Familial Hypercholesterolemia

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

Karbonhidrat Metabolizması Bozuklukları

Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Güncelleme Toplantısı, Türkiye, 1 - 04 Haziran 2017

Tirozinemi İzlem ve Tedavi

Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Güncelleme Toplantısı, Türkiye, 1 - 04 Haziran 2017

Lizozomal Depo Hastalıklarında Nörolojik Bulgular ve Tedavileri

14.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Türkiye, 26 - 30 Nisan 2017

Mukopoli̇sakkari̇dozlar: Tanı ve Tedavi̇de Güncel YaklaşImları

39. Pediatri Günleri ve 18. Pediatri Hemşireliği Günleri, Türkiye, 2 - 05 Nisan 2017

Yenidoğanda Tarama Testleri

İlk 1000 gün 5. Kongresi, Türkiye, 19 - 22 Mart 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, Amerika Birleşik Devletleri, 13 - 17 Şubat 2017, cilt.120 identifier

ÇOCUKLARDA VİTAMİN VE MİNERAL DESTEĞİ

60. Türkiye Milli Pediatri Kongresi, Antalya, Türkiye, 9 - 13 Kasım 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 Eylül 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 Eylül 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 Eylül 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 Eylül 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 Eylül 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 Eylül 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 Eylül 2016, cilt.39, ss.35-284

BonemineradensityandvitaminDstatusininbornerrorsofmetabolism

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

LAL enzim eksikliği

11. Ulusal Çocuk Gastroenteroloji Hepatoloji ve Beslenme Kongresi, Türkiye, 4 - 07 Mayıs 2016

Cobalamin C disease with hypopigmented cutaneousfindings A unique case

annual symposium of the society for the study of inborn errors of metabolism, Lyon, Fransa, 1 - 04 Eylül 2015, cilt.38, ss.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, Fransa, 1 - 04 Eylül 2015

Sol çenede Lenfatik tutlum ile giden Niemann Pick tip C olgusu

XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Türkiye, 14 - 18 Nisan 2015

Lizozomal depo hastalıklarına yaklaşım

2. Marmara Pediatri Kongresi, Türkiye, 12 - 14 Şubat 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, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.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, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114 identifier

Three siblings with ext1 CDG

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, İsviçre, 30 Ağustos - 02 Eylül 2011

Kitap & Kitap Bölümleri

Glikojen Depo Hastalıkları

TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.1107-1111, 2020

Tirozin Metabolizması Bozuklukları

TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.1144-1148, 2020

Keton Cisim Yapım ve Yıkım Bozuklukları

TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.1132-1135, 2020

Yağ Asidi Oksidasyon Bozuklukları

TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.1126-1130, 2020

Mitokondriyal Hastalıklar

TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.1136-1139, 2020

Fruktoz Metabolizması Bozuklukları

TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.1122-1123, 2020

Metionin Metabolizması Bozuklukları

TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.1156-1158, 2020

Vitaminler

TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.30-44, 2020

Dı̇kkat Eksı̇klı̇ğı̇ Ve Hı̇peraktı̇vı̇te Bozukluğunda Nörometabolı̇k Değerlendı̇rme

Dı̇kkat Eksı̇klı̇ğı̇ Ve Hı̇peraktı̇vı̇te Bozukluğu, Şebnem Soysal, Editör, Nobel, ss.483-488, 2019

Normal Çocuklukta Beslenme ve Beslenme Bozuklukları

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, Editör, ema tıp kitapevi, ss.281-308, 2018

Peroksizomal Bozukluklar

Yurdakök Pediatri, Murat Yurdakök, Editör, Güneş Tıp Kitapevleri, Ankara, ss.1813-1820, 2017