Doç.Dr. İLYAS OKUR

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Nutritional Status of Syrian Refugees in Early Adolescence Living in Turkey

PEHLİVANTÜRK KIZILKAN M., ÖZMERT E. N. , DERMAN O., OKUR İ. , KAYNAK M. O. , Adiguzel A., et al.

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

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

Olgac A., İNCİ A. , OKUR İ. , BİBEROĞLU G. , Oguz D. , EZGÜ F. S. , et al.

ANNALS OF NUTRITION AND METABOLISM, cilt.76, ss.233-241, 2020 (SCI İndekslerine Giren Dergi)

CDH13andLPHN3Gene Polymorphisms in Attention-Deficit/Hyperactivity Disorder: Their Relation to Clinical Characteristics

ÖZASLAN A. , GÜNEY E. , ERGÜN M. A. , OKUR İ. , YAPAR D.

JOURNAL OF MOLECULAR NEUROSCIENCE, 2020 (SCI İndekslerine Giren Dergi)

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

Olgac A., İNCİ A. , OKUR İ. , Ezgu F., BİBEROĞLU G. , Turner L.

JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, cilt.29, ss.1207-1211, 2019 (SCI İndekslerine Giren Dergi)

High incidence of co-existing factors significantly modifying the phenotype in patients with Fabry disease

Koca S., TÜMER L. , OKUR İ. , ERTEN Y. , Bakkaloglu S., BİBEROĞLU G. , et al.

GENE, cilt.687, ss.280-288, 2019 (SCI İndekslerine Giren Dergi)

Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy

Guliyeva U., OKUR İ. , Dulac O., Khalilov O., Guliyeva S.

NEUROPEDIATRICS, cilt.49, ss.417-418, 2018 (SCI İndekslerine Giren Dergi)

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

Sal E., Yenicesu I., OKUR İ. , KAYA Z. , EZGÜ F. S. , KOÇAK Ü. , et al.

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

Patient With Niemann-Pick Type C Presenting With a Jaw Mass Characterized With Lymph Node Involvement by Niemann-Pick Cells

İNCİ A. , OKUR İ. , ESENDAĞLI G. , OKUR A. , Olgac A., EZGÜ F. S. , et al.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.40, ss.243-245, 2018 (SCI İndekslerine Giren Dergi)

Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects

Walsh M. T. , Di Leo E., OKUR İ. , Tarugi P., Hussain M. M.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS, cilt.1861, ss.1623-1633, 2016 (SCI İndekslerine Giren Dergi)

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Angius A., Uva P., Buers I., Oppo M., Puddu A., Onano S., et al.

AMERICAN JOURNAL OF HUMAN GENETICS, cilt.99, ss.236-245, 2016 (SCI İndekslerine Giren Dergi)

Audiologic evaluations of children with mucopolysaccharidosis

Gokdogan C., ALTINYAY Ş. , Gokdogan O., TUTAR H. , GÜNDÜZ B. , OKUR İ. , et al.

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

The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations

Di Leo E., Eminoglu T., Magnolo L., Bolkent M. G. , TÜMER L. , OKUR İ. , et al.

JOURNAL OF CLINICAL LIPIDOLOGY, cilt.9, ss.400-405, 2015 (SCI İndekslerine Giren Dergi)

Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

van Hasselt P. M. , Ferdinandusse S., Monroe G. R. , Ruiter J. P. N. , Turkenburg M., Geerlings M. J. , et al.

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

Serum dipeptidyl peptidase-IV: A better screening test for early detection of mucopolysaccharidosis?

Kurt I., Sertoglu E., OKUR İ. , Tapan S., Uyanik M., Kayadibi H., et al.

CLINICA CHIMICA ACTA, cilt.431, ss.250-254, 2014 (SCI İndekslerine Giren Dergi)

Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: Identification of new case with novel mutation

OKUR İ. , Ezgu F., BİBEROĞLU G. , Turner L., ERTEN Y. , Isitman M., et al.

GENE, cilt.527, ss.42-47, 2013 (SCI İndekslerine Giren Dergi)

Quality of life in children treated with restrictive diet for inherited metabolic disease

Eminoglu T. F. , Soysal S. A. , TÜMER L. , OKUR İ. , Hasanoglu A.

PEDIATRICS INTERNATIONAL, cilt.55, ss.428-433, 2013 (SCI İndekslerine Giren Dergi)

Oxidized low-density lipoprotein levels and carotid intima-media thickness as markers of early atherosclerosis in prepubertal obese children

OKUR İ. , TÜMER L. , EZGÜ F. S. , Yesilkaya E., Aral A., ÖZHAN OKTAR S. , et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.26, ss.657-662, 2013 (SCI İndekslerine Giren Dergi)

Hypercalcemia in glycogen storage disease type I patients of Turkish origin

Kasapkara C. S. , TÜMER L. , OKUR İ. , Eminoglu T., EZGÜ F. S. , Hasanoglu A.

TURKISH JOURNAL OF PEDIATRICS, cilt.54, ss.35-37, 2012 (SCI İndekslerine Giren Dergi)

The levels of asymmetric dimethylarginine, homocysteine and carotid intima-media thickness in hypercholesterolemic children

Hasanoglu A., OKUR İ. , Oren A. C. , BİBEROĞLU G. , ÖZHAN OKTAR S. , Eminoglu F. T. , et al.

TURKISH JOURNAL OF PEDIATRICS, cilt.53, ss.522-527, 2011 (SCI İndekslerine Giren Dergi)

N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia

Kasapkara C. S. , EZGÜ F. S. , OKUR İ. , TÜMER L. , BİBEROĞLU G. , Hasanoglu A.

EUROPEAN JOURNAL OF PEDIATRICS, cilt.170, ss.799-801, 2011 (SCI İndekslerine Giren Dergi)

IDUA Mutational Profiling of a Cohort of 102 European Patients with Mucopolysaccharidosis Type I: Identification and Characterization of 35 Novel alpha-L-iduronidase (IDUA) Alleles

Bertola F., Filocamo M., Casati G., Mort M., Rosano C., Tylki-Szymanska A., et al.

HUMAN MUTATION, cilt.32, 2011 (SCI İndekslerine Giren Dergi)

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

Hasanoglu A., Balwani M., Kasapkara C. S. , EZGÜ F. S. , OKUR İ. , TÜMER L. , et al.

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

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

Ezgu F., Eminoglu T., OKUR İ. , Gunduz M., Tumer L., Hasanoglu A., et al.

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

The role of viral agents in aetiopathogenesis of acute rheumatic fever

Olgunturk R., OKUR İ. , Cirak M. Y. , OĞUZ A. D. , Akalin N., Turet S., et al.

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

A NOVEL MUTATION OF THE CLAUDIN 16 GENE IN FAMILIAL HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS MIMICKING RICKETS

Kasapkara C. S. , Tumer L., OKUR İ. , Hasanoglu A.

GENETIC COUNSELING, cilt.22, ss.187-192, 2011 (SCI İndekslerine Giren Dergi)

3-Methylcrotonyl-CoA Carboxylase Deficiency: Phenotypic Variability in a Family

Eminoglu F. T. , Ozcelik A. A. , OKUR İ. , TÜMER L. , BİBEROĞLU G. , DEMİR E. , et al.

JOURNAL OF CHILD NEUROLOGY, cilt.24, ss.478-481, 2009 (SCI İndekslerine Giren Dergi)

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

OKUR İ. , TÜMER L. , Crisponi L., Eminoglu F. T. , Chiappe F., CİNAZ P. , et al.

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

Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity

Eminoglu T. F. , Tumer L., OKUR İ. , Olgunturk R., Hasanoglu A., Gonul I. I. , et al.

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.31, 2008 (SCI İndekslerine Giren Dergi)

Lipid apheresis applications in childhood: Experience in the University Hospital of Gazi

Eminoglu T. F. , Yenicesu I., TÜMER L. , OKUR İ. , Dilsiz G., Hasanoglu A.

TRANSFUSION AND APHERESIS SCIENCE, cilt.39, ss.235-240, 2008 (SCI İndekslerine Giren Dergi)

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

Ezgu F., Hasanoglu A., OKUR İ. , Biberoglu G., Tumer L., Eminoglu T., et al.

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

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

Ezgu F., Buyan N., Gunduz M., Tumer L., OKUR İ. , Hasanoglu A.

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

Diğer Dergilerde Yayınlanan Makaleler

Citrullinemia with an Atypical Presentation: Paroxysmal Hypoventilation Attacks

Ozturk Z., HIRFANOĞLU T. , İNCİ A. , OKUR İ. , KOÇ E. , TÜMER L. , et al.

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

Association Between Soluble CD40 Ligand and Hypercholesterolemia in Children and Adolescents

Yavas A. K. , Eminoglu T. F. , OKUR İ. , Aral A., Hasanoglu A., TÜMER L.

JOURNAL OF PEDIATRIC RESEARCH, cilt.4, ss.1-5, 2017 (ESCI İndekslerine Giren Dergi)

Giant bronchogenic cyst mimicking tension pneumothorax.

Demircan S., Kurul İ. C. , Tokur M., Memis L., Okur İ.

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

Karbonmonoksit Zehirlenmesinde Hiperbarik Oksijen Tedavisi İki Olgu Sunumu

OKUR İ. , SERDAROĞLU A. , OKUR A. , BUYAN N. , DÜNDAR K., ARGA M., et al.

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

Dundar H., Udgu B., BİBEROĞLU G. , Inci A., Ezgu F., IŞIK GÖNÜL İ. , et al.

16th Annual Research Meeting of the WORLDSymposium(TM), Florida, Amerika Birleşik Devletleri, 10 - 14 Şubat 2020, cilt.129

Screening of twelve lysosomal storage diseases with LC-MS/MS in Gazi university hospital in Turkey: The firstresults of validation

BİBEROĞLU G. , İNCİ A. , DERİN B. , OKUR İ. , EZGÜ F. S. , TÜMER L.

SSIEM, 3 - 06 Eylül 2019

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

OLGAÇ M. A. B. , İNCİ A. , OKUR İ. , Kasapkara Ç. S. , BİBEROĞLU G. , OĞUZ A. D. , et al.

SSIEM 2019, 3-6th September, 2019, Rotterdam-The Netherlands, 3 - 06 Eylül 2019

Next generation DNA sequencing as an initial diagnostic method for congenital defects of glycosylation

EZGÜ F. S. , İNCİ A. , Çiftçi B., TÜMER L. , OKUR İ. , Topçu B., et al.

SSIEM 2019, 3-6th September, 2019, Rotterdam-The Netherlands, 3 - 06 Eylül 2019

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

KOÇ N., KUYUCU A., GÜNDÜZ M., OKUR İ. , ÖZAYDIN E.

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

KILIÇ A. , EMECAN ŞANLI M., ÖZSAYDI E., İNCİ A. , OKUR İ. , TÜMER L. , et al.

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.

BİBEROĞLU G. , İNCİ A. , DERİN B. , OKUR İ. , EZGÜ F. S. , TÜMER L.

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

Could Targeted Next Generation Sequencing Be A First Line Diagnostic Method for Lysosomal Storage Disease?

CENGİZ F. B. , İNCİ A., BİBEROĞLU G., Çiftçi B., Topçu B., Tokgöz D., et al.

International Inborn Errors of Metabolism and Nutrition Congress, 10 - 14 Nisan 2019

Familial Hyperphosphatemic Tumoral Calcinosis in an Unusual Site

Emecan Şanlı M., Özsaydı E., kılıç m., İNCİ A. , OKUR İ. , EZGÜ F. S. , et al.

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

Emecan Şanlı M., Özsaydı E., kılıç m., İNCİ A. , OKUR İ. , EZGÜ F. S. , et al.

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

Özsaydı E., Emecan Şanlı M., kılıç m., İNCİ A. , OKUR İ. , TÜMER L. , et al.

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

İNCİ A. , OKUR İ. , AKKUZU E., DÖĞER E. , BİBEROĞLU G. , KALKAN G., et al.

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

İNCİ A. , OKUR İ. , AKKUZU E., DÖĞER E. , BİBEROĞLU G. , KALKAN G., et al.

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

Emecan Şanlı M., kılıç m., Özsaydı E., İNCİ A. , OKUR İ. , TÜMER L. , et al.

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

Emecan Şanlı M., kılıç m., Özsaydı E., İNCİ A. , OKUR İ. , EZGÜ F. S. , et al.

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

ICV-administered tralesinidase alfa (BMN 250 NAGLU-IGF2) is well-tolerated and reduces heparan sulfate accumulation in the CNS of subjects with Sanfilippo syndrome type B (MPS IIIB)

Cleary M., Muschol N., Luz Couce M., Harmatz P., Lee J., Lin S., et al.

15th Annual Research Meeting of the WORLDSymposium(TM), Florida, Amerika Birleşik Devletleri, 4 - 07 Şubat 2019, cilt.126

Respiratory system involvement of 41 Mucopolysaccaridosis patients with the evaluation of KL-6, SPA and SPD levels

İNCİ A. , OKUR İ. , Yılmaz Demirtaş C., BİBEROĞLU G. , ASLAN A. T. , EZGÜ F. S. , et al.

15 th MEMG, Beyrut, 29 Kasım - 02 Aralık 2018

UNIQUE CLINICAL AND MOLECULAR FINDINGS IN LARGE COHORT OF PATIENTS WITH GAUCHER DISEASE FROM TURKEY

Akay Tayfun G., OKUR İ. , BİBEROĞLU G. , TÜMER L. , İNCİ A. , Küçükcongar A., et al.

Gaucher Symphosium, İstanbul, Türkiye, 21 - 22 Ekim 2018

The clinical evaluation of Fabry patientswith Mainz severity score index and DS3 score

OKUR İ. , İNCİ A. , bütün s., BİBEROĞLU G. , EZGÜ F. S. , TÜMER L.

SSIEM, 4 - 07 Eylül 2018

Glycogen storage disease type 9: Insidious onset,mild form

TÜMER L. , İNCİ A. , OKUR İ. , BİBEROĞLU G. , EZGÜ F. S.

SSIEM, 4 - 07 Eylül 2018

Determination of succinylacetone in dried blood spot: preliminary results of our laboratory

BİBEROĞLU G. , TÜMER L. , OKUR İ. , EZGÜ F. S. , İNCİ A.

SSIEM, 4 - 07 Eylül 2018

An early diagnosis cerebretendinous xanthomatosis in a patient at the age of 15 years

İNCİ A. , BİBEROĞLU G. , OKUR İ. , TÜMER L. , EZGÜ F. S.

SSIEM, 4 - 07 Eylül 2018

Respiratory system involvement of mucopolysaccaridosis patients with the evaluation of KL-6, SPA and SPD levels

İNCİ A. , OKUR İ. , YILMAZ-DEMİRTAŞ C. , BİBEROĞLU G. , aslan a., EZGÜ F. S. , et al.

SSIEM, 4 - 07 Eylül 2018

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

Okur İ. , Cleary M., de Castro Lopez M. J. , Harmatz P., Lee J., Lin S., et al.

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

Short Chain Fatty Acid OxidationDefect in an Adult Patient With RefractorySeizures

İNCİ A. , TÜMER L. , OKUR İ. , BİBEROĞLU G. , EZGÜ F. S.

ICIEM, 5 - 08 Eylül 2017

Carnitine Acyl Carnitine TranslocaseDeficiency With Severe Hyperammonemiaand Hypoglycemia

İNCİ A. , OKUR İ. , OLGAÇ M. A. B. , AKKUZU E., BİBEROĞLU G. , EZGÜ F. S. , et al.

ICIEM, 5 - 08 Eylül 2017

Preliminary Results of Our Laboratoryfor Bile Acid Metabolism Disorders

BİBEROĞLU G. , DERİN B. , İNCİ A. , OKUR İ. , EZGÜ F. S. , TÜMER L.

ICIEM, 5 - 08 Eylül 2017

Renal Involvement in Fabry Disease

İNCİ A. , BİBEROĞLU G. , OKUR İ. , PAŞAOĞLU Ö. T. , TÜMER L. , PAŞAOĞLU H. , et al.

ICIEM, 5 - 08 Eylül 2017

DiagnosticCapability ofNextGenerationDNA Sequencing With A 450 Gene Panel forInborn Errors of Metabolism

EZGÜ F. S. , çiftci b., topcu b., İNCİ A. , OKUR İ. , BİBEROĞLU G. , et al.

ICIEM, 5 - 08 Eylül 2017

Screening ALPL Gene Differences byNext Generation Sequence Techonology inPatients Having Low ALP Levels

İNCİ A. , EZGÜ F. S. , topcu b., çiftci b., OKUR İ. , BİBEROĞLU G. , et al.

ICIEM, 5 - 08 Eylül 2017

Renal İnvolvement in Fabry Disease

İNCİ A. , BİBEROĞLU G. , OKUR İ. , PAŞAOĞLU Ö. T. , TÜMER L. , PAŞAOĞLU H. , et al.

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

In Vitro Stopcodon Readthrough ofAlfa-Galactosidase and Alfa-GlucosidasePremature Termination Codons UsingGentamicin, Geneticin, and Ataluren:Therapeutic Potential for Fabry and PompeDiseases

dundar h., BİBEROĞLU G. , OKUR İ. , TÜMER L. , EZGÜ F. S.

ICIEM, 5 - 08 Eylül 2017

İnvestigation of LDLR Gene Mutations in Turkish Patients With Familial Hypercholesterolemia

OKUR İ. , İNCİ A. , OLGAÇ M. A. B. , ÇİFTÇİ B., TOPÇU B., TÜMER L. , et al.

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

Karbonhidrat Metabolizması Bozuklukları

OKUR İ.

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

Tirozinemi İzlem ve Tedavi

OKUR İ.

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

Lizozomal Depo Hastalıklarında Nörolojik Bulgular ve Tedavileri

OKUR İ.

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

Mukopoli̇sakkari̇dozlar: Tanı ve Tedavi̇de Güncel YaklaşImları

OKUR İ.

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

Yenidoğanda Tarama Testleri

OKUR İ.

İlk 1000 gün 5. Kongresi, Türkiye, 19 - 22 Mart 2017

Ai̇levi̇ Hi̇perkolesterolemi̇ Olan Türk Hastalarda LDLR Gen Mutasyonlarinin Araştırılması

OKUR İ. , EZGÜ F. S. , İNCİ A. , OLGAÇ M. A. B. , TÜMER L.

2. Ege Endokrı̇n Hastalıklar ve Genetı̇k Sempozyumu, Türkiye, 23 - 25 Şubat 2017

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

Dundar H., BİBEROĞLU G. , OKUR İ. , TÜMER L. , EZGÜ F. S.

13th Annual Research Meeting on We're Organizing Research for Lysosomal Diseases (WORLD), California, Amerika Birleşik Devletleri, 13 - 17 Şubat 2017, cilt.120

Evaluation of chitotriosidase and high sensitive c reactive protein levels in mucopolysaccharidosis

İNCİ A. , GENÇ B., YILMAZ-DEMİRTAŞ C. , UDGU B., KARAOĞLU A., OKUR İ. , et al.

13th Middle East Metabolic Group Meeting/ Amman-Jordan, 28 - 30 Ekim 2016

ÇOCUKLARDA VİTAMİN VE MİNERAL DESTEĞİ

OKUR İ.

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

Do cytokine levels play a role in the pathogenesis of mucopolysaccharidosis patients

İNCİ A. , TÜMER L. , YILMAZ-DEMİRTAŞ C. , KARAOĞLU A., OKUR İ. , OLGAÇ M. A. B. , et al.

13th Middle East Metabolic Group Meeting/Amman -Jordan, 28 - 30 Ekim 2016

Evaluation of chitotriosidase and high sensitive c reactive protein levels in mucopolysaccarıdosıs

İNCİ A. , GENÇ B., YILMAZ-DEMİRTAŞ C. , UDGU B., KARAOĞLU A., OKUR İ. , et al.

13th MEMG Meeting, 28 ekim-30kasım 2016, Amman, Jordan, 28 - 30 Ekim 2016

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

İNCİ A. , DERİN B. , YILMAZ C. , udgu b., KARAOĞLU A., OKUR İ. , et al.

MEMG, 28 - 30 Ekim 2016

Could propionylcarnitine and free carnitinebe used as antioxidative markers in mucopolysaccaridosis

İNCİ A. , BİBEROĞLU G. , DERİN B. , KARAOĞLU A., OKUR İ. , EZGÜ F. S. , et al.

MEMG, 28 - 30 Ekim 2016

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

KARAOĞLU A., İNCİ A. , BİBEROĞLU G. , OKUR İ. , kılıçkaya a., TÜMER L. , et al.

MEMG, 28 - 30 Ekim 2016

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

EZGÜ F. S. , topcu b., çiftci b., dündar H., BİBEROĞLU G. , OKUR İ. , et al.

MEMG, 28 - 30 Ekim 2016

Evaluation of gentamycin for stop codon readthrough therapy in Fabry disease

halil d., BİBEROĞLU G. , çiftci b., topcu b., OKUR İ. , TÜMER L. , et al.

MEMG, 28 - 30 Ekim 2016