Metrikler
Yayın
158
Açık Erişim
20
BM Sürdürülebilir Kalkınma Amaçları
Eğitim Bilgileri
1977 - Devam Ediyor
1977 - Devam EdiyorTıpta Yandal Uzmanlık
Hacettepe Üniversitesi, Tıp Fakültesi, Türkiye
1977 - 1981
1977 - 1981Tıpta Uzmanlık
Hacettepe Üniversitesi, Tıp Fakültesi, Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı, Türkiye
Araştırma Alanları
Tıp
Sağlık Bilimleri
Dahili Tıp Bilimleri
Çocuk Sağlığı ve Hastalıkları
Pediatrik Endokrinoloji ve Metabolizma
Akademik Ünvanlar / Görevler
1977 - Devam Ediyor
1977 - Devam EdiyorProf. Dr.
Hacettepe Üniversitesi, Hacettepe Tıp Fakültesı
1977 - 1981
1977 - 1981Prof. Dr.
Hacettepe Üniversitesi, Tıp Fakültesi (İngilizce), Dahili Tıp Bilimleri Bölümü
Makaleler
Tümü (100)
SCI-E, SSCI, AHCI (95)
SCI-E, SSCI, AHCI, ESCI (99)
ESCI (4)
Scopus (98)
TRDizin (14)
2025
20251. Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria
KAHRAMAN A. B., ÇIKI K., POŞUL B., Guvercin M., YILDIZ Y., DURSUN A., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.67, sa.2, ss.175-185, 2025 (SCI-Expanded, Scopus, TRDizin)
2025
20252. Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort
AKAR H. T., KAHRAMAN A. B., YILDIZ Y., Baran B., ÇIKI K., COŞKUN T., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, sa.4, ss.399-405, 2025 (SCI-Expanded, Scopus)
2025
20253. Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes
ILGAZ F., Hoeller A., Marsaux C., Banta-Wright S., COŞKUN T., Dingess K. A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, sa.2, 2025 (SCI-Expanded, Scopus)
2025
20254. High prevalence of low bone mineral density in young adults with phenylketonuria
ÇIKI K., KAHRAMAN A. B., AKAR H. T., YILDIZ Y., DURSUN A., Tokatli A., et al.
POSTGRADUATE MEDICINE
, sa.1, ss.86-92, 2025 (SCI-Expanded, Scopus)
2024
20245. Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity
Pinto A., Ahring K., Almeida M. F., Ashmore C., Belanger-Quintana A., Burlina A., et al.
NUTRIENTS
, cilt.16, sa.17, 2024 (SCI-Expanded, Scopus)
2024
20246. Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
Pinto A., Ahring K., Almeida M. F., Ashmore C., Belanger-Quintana A., Burlina A., et al.
NUTRIENTS
, cilt.16, sa.13, 2024 (SCI-Expanded, Scopus)
2024
20247. Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency
YILDIZ Y., Ardıçlı D., GÖÇMEN R., YALNIZOĞLU D., Topçu M., Coşkun T., et al.
European Journal of Paediatric Neurology
, cilt.49, ss.66-72, 2024 (SCI-Expanded, Scopus)
2024
20248. Why Infants with Some Inherited Metabolic Diseases do not Develop Neonatal Indirect Hyperbilirubinemia ? An Overlooked Detail
Ozturk G. K., KORKMAZ TOYGAR A., ÇELİK H. T., YİĞİT Ş., YURDAKÖK M., COŞKUN T.
JOURNAL OF PEDIATRIC RESEARCH
, cilt.11, sa.1, ss.17-24, 2024 (ESCI, Scopus, TRDizin)
2023
20239. Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy
ÇIKI K., YILDIZ Y., KAHRAMAN A. B., ÖZGÜL R. K., COŞKUN T., DURSUN A., et al.
Molecular Genetics and Metabolism
, cilt.140, sa.3, 2023 (SCI-Expanded, Scopus)
2022
202210. Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism
ÜNSAL Y., YURDAKÖK M., YİĞİT Ş., ÇELİK H. T., DURSUN A., SİVRİ H. S., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.35, sa.11, ss.1345-1356, 2022 (SCI-Expanded, Scopus)
2022
202211. Recommendations on phenylketonuria in Turkey
COŞKUN T., ÇOKER M., Mungan N. O., GÖKMEN ÖZEL H., SİVRİ H. S.
TURKISH JOURNAL OF PEDIATRICS
, cilt.64, sa.3, ss.413-434, 2022 (SCI-Expanded, Scopus, TRDizin)
2021
202112. A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders
Semeraro M., Sacchetti E., Deodato F., COŞKUN T., LAY İ., Catesini G., et al.
Orphanet Journal of Rare Diseases
, cilt.16, sa.1, 2021 (SCI-Expanded, Scopus)
2021
202113. Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center
ÇELEN YOLDAŞ T., BİLGİNER GÜRBÜZ B., AKAR H. T., ÖZMERT E. N., COŞKUN T.
TURKISH JOURNAL OF PEDIATRICS
, cilt.63, sa.5, ss.767-779, 2021 (SCI-Expanded, Scopus)
2021
202114. Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant
BİLGİNER GÜRBÜZ B., YÜCEL YILMAZ D., ÖZGÜL R. K., KOŞUKCU C., DURSUN A., SİVRİ H. S., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.63, sa.4, ss.691-696, 2021 (SCI-Expanded, Scopus, TRDizin)
2021
202115. Evaluation of Cardiac Findings in Mucopolysaccharidosis Type III Patients
BİLGİNER GÜRBÜZ B., AYPAR E., ALEHAN D., TOKATLI A., COŞKUN T., DURSUN A., et al.
JOURNAL OF PEDIATRIC RESEARCH
, cilt.8, sa.2, ss.195-201, 2021 (ESCI, TRDizin)
2021
202116. Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy
BİLGİNER GÜRBÜZ B., AYKAN H. H., ÇIKI K., KARAGÖZ T., Sivri S., DURSUN A., et al.
CUKUROVA MEDICAL JOURNAL
, cilt.46, sa.4, ss.1419-1425, 2021 (ESCI, TRDizin)
2020
202017. Molecular etiology of isolated congenital cataract using next-generation sequencing: Single center exome sequencing data from Turkey
Taylan Şekeroğlu H., Karaosmanoğlu B., Taşkıran E. Z., Şimşek Kiper P. Ö., Alikaşifoğlu M., Boduroğlu O. K., et al.
Molecular Syndromology
, cilt.11, ss.302-308, 2020 (SCI-Expanded, Scopus)
2020
202018. Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients
BİLGİNER GÜRBÜZ B., YÜCEL YILMAZ D., COŞKUN T., TOKATLI A., DURSUN A., SİVRİ H. S.
EUROPEAN JOURNAL OF MEDICAL GENETICS
, cilt.63, sa.11, 2020 (SCI-Expanded, Scopus)
2020
202019. Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review
Kilic M., Dorum S., Topak A., Yazici M. U., EZGÜ F. S., COŞKUN T.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.182, sa.7, ss.1608-1614, 2020 (SCI-Expanded, Scopus)
2020
202020. Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department
YILDIZ Y., Akcan Yildiz L., DURSUN A., TOKATLI A., COŞKUN T., TEKŞAM Ö., et al.
EUROPEAN JOURNAL OF PEDIATRICS
, cilt.179, sa.7, ss.1107-1114, 2020 (SCI-Expanded, Scopus)
2020
202021. Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay
Hızal M., Yeke B., YILDIZ Y., Öztürk A., Gürbüz B. B., COŞKUN T.
TURKISH JOURNAL OF PEDIATRICS
, cilt.62, sa.3, ss.474-478, 2020 (SCI-Expanded, Scopus, TRDizin)
2020
202022. Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe
YILDIZ Y., Arslan M., Celik G., Kasapkara C. S., Ceylaner S., DURSUN A., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.182, sa.4, ss.705-712, 2020 (SCI-Expanded, Scopus)
2020
202023. Caring for a Child with Phenylketonuria: Parental Experiences from a Eurasian Country
ZENGİN AKKUŞ P., BİLGİNER GÜRBÜZ B., ÇIKI K., İLTER BAHADUR E., KARAHAN S., ÖZMERT E. N., et al.
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
, cilt.41, sa.3, ss.195-202, 2020 (SCI-Expanded, SSCI, Scopus)
2020
202024. Oral health status of children with phenylketonuria
BALLIKAYA E., YILDIZ Y., SİVRİ H. S., TOKATLI A., DURSUN A., Olmez S., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.33, sa.3, ss.361-365, 2020 (SCI-Expanded, Scopus)
2019
201925. Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency
YILDIZ Y., TALİM B., Haliloglu G., Topaloglu H., AKÇÖREN Z., DURSUN A., et al.
PEDIATRIC NEUROLOGY
, cilt.99, ss.69-75, 2019 (SCI-Expanded, Scopus)
2019
201926. The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis
BİLGİNER GÜRBÜZ B., AYPAR E., COŞKUN T., ALEHAN D., DURSUN A., TOKATLI A., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.32, sa.10, ss.1049-1053, 2019 (SCI-Expanded, Scopus)
2019
201927. Imaging liver nodules in tyrosinemia type-1: A retrospective review of 16 cases in a tertiary pediatric hospital
ÖZCAN H. N., KARÇAALTINCABA M., Pektas E., SİVRİ H. S., OĞUZ B., DURSUN A., et al.
EUROPEAN JOURNAL OF RADIOLOGY
, cilt.116, ss.41-46, 2019 (SCI-Expanded, Scopus)
2019
201928. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
Muntau A. C., Adams D. J., Belanger-Quintana A., Bushueva T. V., Cerone R., Chien Y., et al.
MOLECULAR GENETICS AND METABOLISM
, cilt.127, sa.1, ss.1-11, 2019 (SCI-Expanded, Scopus)
2019
201929. Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature
Sprute R., ARDIÇLI D., Oguz K. K., Malenica-Mandel A., Daimagueler H., Koy A., et al.
HUMAN GENOME VARIATION
, cilt.6, 2019 (ESCI, Scopus)
2019
201930. Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency
TOPALOĞLU R., Inozu M., GÜLHAN B., BİLGİNER GÜRBÜZ B., TALİM B., COŞKUN T.
NEPHRON
, cilt.142, sa.3, ss.258-263, 2019 (SCI-Expanded, Scopus)
2018
201831. TWO CASES WITH DIVERSE COURSE OF AHUS RELATED TO COBALAMIN C DEFECT
Inozu M., GÜLHAN B., TOKATLI A., COŞKUN T., TOPALOĞLU R.
PEDIATRIC NEPHROLOGY
, cilt.33, sa.10, ss.1848, 2018 (SCI-Expanded, Scopus)
2018
201832. The potential role of gut microbiota and its modulators in the management of propionic and methylmalonic acidemia
Burlina A., Tims S., van Spronsen F., Sperl W., Burlina A. P., Kuhn M., et al.
EXPERT OPINION ON ORPHAN DRUGS
, cilt.6, sa.11, ss.683-692, 2018 (SCI-Expanded, Scopus)
2017
201733. Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey
Kilic M., DURSUN A., COŞKUN T., TOKATLI A., ÖZGÜL R. K., YUCEL-YILMAZ D., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.173, sa.11, ss.2954-2967, 2017 (SCI-Expanded, Scopus)
2017
201734. Deoxyguanosine kinase deficiency: a report of four patients
Unal O., ÖZTÜRK HİŞMİ B., KILIÇ M., HIZARCIOĞLU GÜLŞEN H., COŞKUN T., Sivri S. H., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.30, sa.6, ss.697-702, 2017 (SCI-Expanded, Scopus)
2017
201735. Screening for mucopolysaccharidoses in the Turkish population: Analytical and clinical performance of an age-range specific, dye-based, urinary glycosaminoglycan assay
EL MOUSTAFA K., Sivri S., KARAHAN S., COŞKUN T., Akblyik F., LAY İ.
CLINICA CHIMICA ACTA
, cilt.464, ss.72-78, 2017 (SCI-Expanded, Scopus)
2017
201736. Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride
YILDIZ Y., DURSUN A., TOKATLI A., COŞKUN T., Sivri S.
GYNECOLOGICAL ENDOCRINOLOGY
, cilt.33, sa.1, ss.19-20, 2017 (SCI-Expanded, Scopus)
2016
201637. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
Olsen R. K. J., Konarikova E., Giancaspero T. A., Mosegaard S., Boczonadi V., Matakovic L., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.98, sa.6, ss.1130-1145, 2016 (SCI-Expanded, Scopus)
2016
201638. Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency
Huemer M., Carvalho D. R., Brum J. M., Unal O., COŞKUN T., Weisfeld-Adams J. D., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.39, sa.3, ss.331-340, 2016 (SCI-Expanded, Scopus)
2016
201639. Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results
Gizewska M., MacDonald A., Belanger-Quintana A., Burlina A., Cleary M., COŞKUN T., et al.
EUROPEAN JOURNAL OF PEDIATRICS
, cilt.175, sa.2, ss.261-272, 2016 (SCI-Expanded, Scopus)
2016
201640. Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin
ÖZGÜR HOROZ Ö., Mungan N. O., Yildizdas D., Herguner O., Ceylaner S., KOR D., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.29, sa.2, ss.227-231, 2016 (SCI-Expanded, Scopus)
2016
201641. Evaluation and identification of IDUA gene mutations in Turkish patients with mucopolysaccharidosis type I
Atceken N., ÖZGÜL R. K., Yilmaz D. Y., TOKATLI A., COŞKUN T., SİVRİ H. S., et al.
TURKISH JOURNAL OF MEDICAL SCIENCES
, cilt.46, sa.2, ss.404-408, 2016 (SCI-Expanded, Scopus, TRDizin)
2016
201642. Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder
YILDIZ Y., DURSUN A., TOKATLI A., COŞKUN T., SİVRİ H. S.
TURKISH JOURNAL OF PEDIATRICS
, cilt.58, sa.1, ss.94-96, 2016 (SCI-Expanded, Scopus, TRDizin)
2016
201643. A Nonvirilized form of Classic 3 beta-Hydroxysteroid Dehydrogenase Deficiency Due to a Homozygous S218P Mutation in the HSD3B2 Gene in a Girl with Classic Phenylketonuria
ALİKAŞİFOĞLU A., Buyukyilmaz G., GÖNÇ E. N., ÖZÖN Z. A., KANDEMİR N., DÜNDAR M., et al.
HORMONE RESEARCH IN PAEDIATRICS
, cilt.86, ss.281, 2016 (SCI-Expanded, Scopus)
2015
201544. Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four
ÖZLEM U., GÖKMEN ÖZEL H., COŞKUN T., ÖZGÜL R. K., YÜCEL YILMAZ D., BURCU H., et al.
Turkish Journal Of Pediatrics
, ss.213-218, 2015 (SCI-Expanded, Scopus, TRDizin)
2015
201545. Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening
KARACA M., ÖZGÜL R. K., ÜNAL O., Yucel-Yilmaz D., KILIÇ M., Hismi B., et al.
EUROPEAN JOURNAL OF PEDIATRICS
, cilt.174, sa.8, ss.1077-1084, 2015 (SCI-Expanded, Scopus)
2015
201546. Ailevi Hiperkolesterolemili Hastaların Mutasyon Analiz Sonuçlarının Simone-Broome Kriterleriyle Değerlendirilmesi
AYKAN H. H., ÖZGÜL R. K., Güzel A., COŞKUN T., DURSUN A.
Türkiye Çocuk Hastalıkları Dergisi , cilt.9, sa.3, ss.176-183, 2015 (SCI-Expanded, Scopus, TRDizin)
2015
201547. Conventional and advanced MR imaging in infantile Refsum disease
KILIÇ M., Karli-Oguz K., Haliloglu G., TOPÇU M., Wanders R. J., COŞKUN T.
TURKISH JOURNAL OF PEDIATRICS
, cilt.57, sa.3, ss.294-299, 2015 (SCI-Expanded, Scopus, TRDizin)
2015
201548. Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency
TAYLAN ŞEKEROĞLU H., ÖZTÜRK HİŞMİ B., KADAYIFÇILAR S., COŞKUN T.
JOURNAL OF AAPOS
, cilt.19, sa.1, ss.80-82, 2015 (SCI-Expanded, Scopus)
2015
201549. Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 genemutation.
ÜNAL Ö., ÖZGÜL R. K., YÜCEL YILMAZ D., YALNIZOĞLU D., TOKATLI A., SİVRİ H. S., et al.
Turkish Journal Of Pediatrics , cilt.57, ss.388-393, 2015 (SCI-Expanded, Scopus, TRDizin)
2014
201450. Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
ÖZGÜL R. K., Karaca M., Kilic M., KUCUK O., YUCEL-YILMAZ D., UNAL O., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS
, cilt.57, sa.10, ss.596-601, 2014 (SCI-Expanded, Scopus)
2014
201451. A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings
KILIÇ E., KILIÇ M., ÜTİNE G. E., Sivri S., COŞKUN T., ALANAY Y.
TURKISH JOURNAL OF PEDIATRICS
, cilt.56, sa.4, ss.430-433, 2014 (SCI-Expanded, Scopus)
2014
201452. Mucopolysaccharidosis: Otolaryngologic findings, obstructive sleep apnea and accumulation of glucosaminoglycans in lymphatic tissue of the upper airway
GONULDAS B., YILMAZ T., SİVRİ H. S., GÜÇER K. Ş., KILINC K., GENÇ G. A., et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
, cilt.78, sa.6, ss.944-949, 2014 (SCI-Expanded, Scopus)
2014
201453. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands
Karaca M., Hismi B., ÖZGÜL R. K., Karaca S., Yilmaz D. Y., COŞKUN T., et al.
GENE
, cilt.534, sa.2, ss.197-203, 2014 (SCI-Expanded, Scopus)
2014
201454. Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
Stockler-Ipsiroglu S., van Karnebeek C., Longo N., Korenke G. C., Mercimek-Mahmutoglu S., Marquart I., et al.
MOLECULAR GENETICS AND METABOLISM
, cilt.111, sa.1, ss.16-25, 2014 (SCI-Expanded, Scopus)
2014
201455. Pregnancy and Lactation Outcomes in a Turkish Patient with Lysinuric Protein Intolerance
Unal O., COŞKUN T., ORHAN D., Tokatl A., DURSUN A., ÖZTÜRK HİŞMİ B., et al.
JIMD REPORTS, VOL 13
, cilt.13, ss.33-36, 2014 (SCI-Expanded, Scopus)
2013
201356. Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks
Unal O., ÖZGEN MOCAN B., ORHAN D., TOKATLI A., Hismi B. O., DURSUN A., et al.
JOURNAL OF CHILD NEUROLOGY
, cilt.28, sa.11, ss.1509-1512, 2013 (SCI-Expanded, Scopus)
2013
201357. A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy
Unal O., ORHAN D., Ostergaard E., TOKATLI A., DURSUN A., ÖZTÜRK HİŞMİ B., et al.
JOURNAL OF CHILD NEUROLOGY
, cilt.28, sa.11, ss.1505-1508, 2013 (SCI-Expanded, Scopus)
2013
201358. Cobalamin C defect: a patient of late-onset type with homozygous p. R132*mutation
KILIÇ M., ÖZGÜL R. K., DURSUN A., TOKATLI A., Kalkanoglu-Sivri H. S., Anlar B., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.55, sa.6, ss.633-636, 2013 (SCI-Expanded, Scopus)
2013
201359. Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations
Oezgul R. K., Guezel-Ozantuerk A., Duendar H., Yuecel-Yilmaz D., COŞKUN T., Sivri S., et al.
JOURNAL OF HUMAN GENETICS
, cilt.58, sa.10, ss.675-678, 2013 (SCI-Expanded, Scopus)
2013
201360. Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance
Guzel-Ozanturk A., ÖZGÜL R. K., Unal O., Hismi B., Aydin H. I., Sivri S., et al.
GENE
, cilt.521, sa.2, ss.293-295, 2013 (SCI-Expanded, Scopus)
2013
201361. Genetic basis of hyperlysinemia
Houten S. M., te Brinke H., Denis S., Ruiter J. P. N., Knegt A. C., de Klerk J. B. C., et al.
ORPHANET JOURNAL OF RARE DISEASES
, cilt.8, 2013 (SCI-Expanded, Scopus)
2013
201362. Serum alpha-fetoprotein levels in neonatal cholestasis
DEMİR H., Hizal G., USLU KIZILKAN N., Gurakan F., TALİM B., COŞKUN T., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.55, sa.2, ss.152-157, 2013 (SCI-Expanded, Scopus)
2012
201263. PROPIONIC ACIDEMIA PRESENTING WITH PERSISTENT PULMONARY HYPERTENSION IN TWO NEONATES
Hismi B., TEKŞAM Ö., Unal O., Takci S., Ertugrul İ., SİVRİ H. S., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.35, 2012 (SCI-Expanded, Scopus)
2012
201264. MOLECULAR CHARACTERISATION OF BIOTINIDASE GENE MUTATIONS IN TURKISH PATIENTS; AN UPDATE OF THE RESULTS
Karaca M., Yucel D., Unal O., Guzel A., TOKATLI A., COŞKUN T., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.35, 2012 (SCI-Expanded, Scopus)
2012
201265. Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs
Unal O., ÖZTÜRK HİŞMİ B., COŞKUN T., TOKATLI A., DURSUN A., SİVRİ H. S.
TURKISH JOURNAL OF PEDIATRICS
, cilt.54, sa.4, ss.409-412, 2012 (SCI-Expanded, Scopus)
2012
201266. Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency
KILIÇ M., ÖZGÜL R. K., COŞKUN T., Yucel D., KARACA M. A., SİVRİ H. S., et al.
JIMD REPORTS - CASE AND RESEARCH REPORTS, 2011/3
, cilt.3, ss.17-23, 2012 (SCI-Expanded, Scopus)
2012
201267. A Rare Galactosemia Complication: Vitreous Hemorrhage
Takci S., KADAYIFÇILAR S., COŞKUN T., YİĞİT Ş., ÖZTÜRK HİŞMİ B.
JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/2
, cilt.5, ss.89-93, 2012 (SCI-Expanded, Scopus)
2012
201268. When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center
Haliloglu G., Vezir E., Baydar L., Onol S., Sivri S., COŞKUN T., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.54, sa.1, ss.52-58, 2012 (SCI-Expanded, Scopus)
2012
201269. Genetic basis of cystinosis in Turkish patients: a single-center experience
TOPALOĞLU R., Vilboux T., COŞKUN T., ÖZALTIN F., Tinloy B., Gunay-Aygun M., et al.
PEDIATRIC NEPHROLOGY
, cilt.27, sa.1, ss.115-121, 2012 (SCI-Expanded, Scopus)
2011
201170. Effects of probiotic (Primalac 454) on nonalcoholic fatty liver disease in broilers
YALÇIN S. S., Gucer S., Yalcin S., ONBAŞILAR İ., Kale G., COŞKUN T.
REVUE DE MEDECINE VETERINAIRE
, cilt.162, sa.7, ss.371-376, 2011 (SCI-Expanded, Scopus)
2011
201171. Annual symposium of the SSIEM 2010
Coskun T.
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.34, sa.3, ss.561-562, 2011 (SCI-Expanded, Scopus)
2011
201172. Home visits in phenylketonuria: a 12-month longitudinal study
GOKMEN-OZEL H., Buyuktuncer Z., Koksal G., KALKANOGLU-SIVRI H. S., COŞKUN T.
TURKISH JOURNAL OF PEDIATRICS
, cilt.53, sa.2, ss.149-153, 2011 (SCI-Expanded, Scopus)
2011
201173. Gyrate atrophy of the choroid and retina: a case report
Buyuktortop N., Alp M. N., Sivri S., COŞKUN T., Kural G.
TURKISH JOURNAL OF PEDIATRICS
, cilt.53, sa.1, ss.94-96, 2011 (SCI-Expanded, Scopus)
2011
201174. A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome
KILIÇ M., SİVRİ H. S., DURSUN A., TOKATLI A., De Meirleir L., Seneca S., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.53, sa.1, ss.79-82, 2011 (SCI-Expanded, Scopus)
2011
201175. MUTATION ANALYSIS IN ARSB GENE IN TURKISH PATIENTS WITH MPS TYPE VI: HIGH PREVALENCE OF L321P MUTATION
ÖZGÜL R. K., Karaca M., SİVRİ H. S., TOKATLI A., COŞKUN T., DURSUN A.
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.34, 2011 (SCI-Expanded, Scopus)
2011
201176. IDENTIFICATION OF NOVEL MUTATIONS IN PROMOTER AND CODING REGIONS IN ALDOB GENE CAUSING HEREDITARY FRUCTOSE INTOLERANCE
Yucel D., ÖZGÜL R. K., COŞKUN T., SİVRİ H. S., TOKATLI A., DURSUN A.
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.34, 2011 (SCI-Expanded, Scopus)
2011
201177. Zinc supplementation and TNF-alpha levels in vaccinated cardiac patients
YALÇIN Ş., Engur-Karasimav D., ALEHAN D., YURDAKÖK K., Ozkutlu S., COŞKUN T.
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY
, cilt.25, sa.2, ss.85-90, 2011 (SCI-Expanded, Scopus)
2010
201078. Glycogen storage disease and hemophagocytosis: A case report Glikojen depo hastaliǧi ve hemofagositik lenfohistiyositoz birlikteliǧi: Bir vaka takdimi
Çaǧdaš D. N., YURDAKÖK M., COŞKUN T., DEMİR H.
Cocuk Sagligi ve Hastaliklari Dergisi
, cilt.53, sa.3, ss.216-219, 2010 (Scopus)
2010
201079. GROWTH AND PROTEIN INTAKE IN PHENYLKETONURIA: RESULTS OF 398 TURKISH CHILDREN
GOKMEN-OZEL H., Buyuktuncer Z., KOKSAL G., KILIÇ M., DURSUN A., KALKANOGLU-SIVRI S., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.33, 2010 (SCI-Expanded, Scopus)
2010
201080. VITAMIN B6 AND B12 STATUS IN TURKISH CHILDREN WITH PHENYLKETONURIA
Buyuktuncer Z., GOKMEN-OZEL H., KUCUKKASAP T., KOKSAL G., KILIÇ M., DURSUN A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.33, 2010 (SCI-Expanded, Scopus)
2010
201081. L-2-Hydroxyglutaric Aciduria and Brain Tumors
Coskun T.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
, cilt.32, sa.4, ss.339-340, 2010 (SCI-Expanded, Scopus)
2010
201082. The Relationship between Vitamin D Receptor Gene Polymorphisms and Bone Density, Osteocalcin Level and Growth in Adolescents
Ozaydin E., Dayangac-Erden D., Erdem-Yurter H., DERMAN O., COŞKUN T.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.23, sa.5, ss.491-496, 2010 (SCI-Expanded, Scopus)
2010
201083. The urinary cotinine levels of infants and the determinants
Yilmaz G., Karacan C., BESLER H. T., YURDAKÖK K., COŞKUN T.
TURKISH JOURNAL OF PEDIATRICS
, cilt.52, sa.3, ss.294-300, 2010 (SCI-Expanded, Scopus)
2010
201084. Maternal and environmental determinants of breast-milk mercury concentrations
YALÇIN Ş., YURDAKÖK K., Yalcin S. S., Engur-Karasimav D., COŞKUN T.
TURKISH JOURNAL OF PEDIATRICS
, cilt.52, sa.1, ss.1-9, 2010 (SCI-Expanded, Scopus)
2009
200985. 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures
COŞKUN T., Aydin H. I., KILIÇ M., DURSUN A., Haliloglu G., Topaloglu H., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.51, sa.6, ss.587-592, 2009 (SCI-Expanded, Scopus)
2009
200986. The effect of passive smoking and breast feeding on serum antioxidant vitamin (A, C, E) levels in infants
Yilmaz G., Agras P. I., Hizli S., Karacan C., BESLER H. T., YURDAKÖK K., et al.
ACTA PAEDIATRICA
, cilt.98, sa.3, ss.531-536, 2009 (SCI-Expanded, Scopus)
2009
200987. Molecular genetics of maple syrup urine disease in the Turkish population
Gorzelany K., DURSUN A., COŞKUN T., Kalkanoglu-Sivri S. H., GÖKÇAY G. F., Demirkol M., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.51, sa.2, ss.97-102, 2009 (SCI-Expanded, Scopus)
2009
200988. Prevalence of cystinuria among elementary schoolchildren in Eskisehir, Turkey
Aydogdu S. D., Kirel B., COŞKUN T., Kose S.
SCANDINAVIAN JOURNAL OF UROLOGY AND NEPHROLOGY
, cilt.43, sa.2, ss.138-141, 2009 (SCI-Expanded, Scopus)
2008
200889. Two new cases with Pearson syndrome and review of Hacettepe experience
TOPALOĞLU R., Lebre A. S., Demirkaya E., Kuskonmaz B. B., COŞKUN T., ORHAN D., et al.
TURKISH JOURNAL OF PEDIATRICS
, cilt.50, sa.6, ss.572-576, 2008 (SCI-Expanded, Scopus)
2008
200890. Pearson syndrome associated with hemophagocytic syndrome in a child
GÜMRÜK F., KUŞKONMAZ B. B., COŞKUN T.
Turkish Journal of Hematology
, cilt.25, sa.1, ss.54-55, 2008 (SCI-Expanded, Scopus, TRDizin)
2008
200891. The effect of passive smoking on serum antioxidant vitamin (A, E, C) levels of breastfed and non-breastfed infants
Hizli S., Yilmaz G., Karacan C., YURDAKÖK K., COŞKUN T.
ACTA PAEDIATRICA
, cilt.97, ss.43, 2008 (SCI-Expanded, Scopus)
2008
200892. Neonatal non-ketotic hyperglycinemia: Report of five cases
Demirel N., BAŞ A. Y., Zenciroglu A., Aydemir C., Kalkanoglu S., COŞKUN T.
PEDIATRICS INTERNATIONAL
, cilt.50, sa.1, ss.121-123, 2008 (SCI-Expanded, Scopus)
2008
200893. Vitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient rickets
BORA G., Oezkan B., Dayangac-Erden D., Erdem-Yurter H., COŞKUN T.
TURKISH JOURNAL OF PEDIATRICS
, cilt.50, sa.1, ss.30-33, 2008 (SCI-Expanded, Scopus)
2007
200794. Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents
YETGİN S., Aytac Ş. S., Kalkanoglu S., COŞKUN T., Ortmann C., Kratz C., et al.
Pediatric Hematology and Oncology
, cilt.24, sa.6, ss.453-455, 2007 (SCI-Expanded, Scopus)
2007
200795. Assessment of tetrahydrobiopterin-responsiveness in Turkish hyperphenylalaninemic patients
Yildirim S., Tokatli A., Yilmaz E., Coskun T.
TURKISH JOURNAL OF PEDIATRICS
, cilt.49, sa.1, ss.1-6, 2007 (SCI-Expanded, Scopus)
2007
200796. Acetaminophen-induced hepatotoxicity in a glutathione synthetase-deficient patient
Tokatli A., Kalkanoglu-Sivri H. S., Yuce A., Coskun T.
TURKISH JOURNAL OF PEDIATRICS
, cilt.49, sa.1, ss.75-76, 2007 (SCI-Expanded, Scopus)
2006
200697. Haematological findings in children with inborn errors of metabolism
Tavil B., Sivri H. S. K., Coskun T., Gurgey A., Ozyurek E., DURSUN A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.29, sa.5, ss.607-611, 2006 (SCI-Expanded, Scopus)
2006
200698. Plasma free carnitine levels in 0-12-month-old infants in relation to feeding styles
Hizel S., Kilic F. K., Sanli C., Coskun T., Onal S.
INTERNATIONAL JOURNAL FOR VITAMIN AND NUTRITION RESEARCH
, cilt.76, sa.3, ss.117-123, 2006 (SCI-Expanded, Scopus)
2005
200599. Four-month-old infant with focal segmental glomerulosclerosis and mitochondrial DNA deletion
Unal S., Kalkanoglu H., Kocaefe C., Gueer S., Ozen S., TURANLI G., et al.
JOURNAL OF CHILD NEUROLOGY
, cilt.20, sa.1, ss.83-84, 2005 (SCI-Expanded, Scopus)
2002
2002100. Molecular Analysis of Turkish Mucopolysaccharidosis IVA (Morquio A) Patients: Identification of Novel Mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) Gene
Terzioglu M., TOKATLI A., COŞKUN T., Emre S.
HUMAN MUTATION
, cilt.20, sa.6, 2002 (SCI-Expanded, Scopus)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
2019
20191. Listening Parents Caring A Child With Phenylketonuria
ZENGİN AKKUŞ P., BİLGİNER GÜRBÜZ B., ÇIKI K., İLTER BAHADUR E., KARAHAN S., ÖZMERT E. N., et al.
3rd International Developmental Pediatrics Association Congress, 9 - 12 Aralık 2019, (Özet Bildiri)
2019
20192. Fenilketonüri ile Yaşamak: Anne Ve Babaların Penceresinden
ZENGİN AKKUŞ P., BİLGİNER GÜRBÜZ B., ÇIKI K., İLTER BAHADUR E., KARAHAN S., ÖZMERT E. N., et al.
63. Türkiye Milli Pediatri Kongresi, Türkiye, 30 Ekim - 03 Kasım 2019, (Özet Bildiri)
2019
20193. Hyperphenylalaninemia due to novel JCDNA12 mutation
SİVRİ H. S., ÇIKI K., YÜCEL YILMAZ D., GÜRSES CİLA H. E., ÖZGÜL R. K., TOKATLI A., et al.
SSIEM 2019: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rotterdam, Hollanda, 3 - 06 Eylül 2019, cilt.42, ss.324, (Özet Bildiri)
2018
20184. Oxysterol levelsas oxidative stress biomarkers in organic acidemia patients
Eraslan Y., Lay İ., Samadi A., Gürbüz B., DURSUN A., SİVRİ H. S., et al.
SSIEM 2018: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, 04 Eylül 2018 - 07 Eylül 2017, cilt.41, ss.37-219, (Özet Bildiri)
2017
20175. Biotin May Lead To High Free Thyroxine Levels in Some Immunoassay Methods
PORTAKAL AKÇİN O., GÖNÜL G., GÖNÇ E. N., SİVRİ H. S., ALİKAŞİFOĞLU A., YİĞİT Ş., et al.
69th AACC ANNUAL SCIENTIFIC MEETING, SAN DIEGO, Amerika Birleşik Devletleri, 30 Temmuz - 03 Ağustos 2017, cilt.63, (Özet Bildiri)
2017
20176. Mucopolysaccharidosis in a patyient with congenital glaucoma
DURSUN A., gurbuz b. b., TATAR O., SİVRİ H. S., COŞKUN T.
13. International Congress of İnborn Errors of metabolism, 5 - 08 Eylül 2017, (Özet Bildiri)
2017
20177. Three-year experience of pediatric physicians with adult inpatient consultations
YILDIZ Y., PEKTAŞ E., BİLGİNER GÜRBÜZ B., DURSUN A., TOKATLI A., COŞKUN T., et al.
13th International Congress of Inborn Errors of Metabolism (ICIEM), Rio de Janeiro, Brezilya, 5 Eylül - 08 Mayıs 2017, (Özet Bildiri)
2017
20178. Acute Metabolic Decompensations of Branched-Chain Organic Acidemias in the Pediatric Emergency Department: Clinical Presentation and Outcomes
SİVRİ H. S., YILDIZ Y., AKCAN L., PEKTAŞ E., BİLGİNER GÜRBÜZ B., DURSUN A., et al.
13th International Congress of Inborn Errors of Metabolism, 5 - 08 Eylül 2017, (Özet Bildiri)
2017
20179. Hyperphenylalaninemia in Argininosuccinic Aciduria: A case report.
LAY İ., GÖKSOY E., SİVRİ H. S., COŞKUN T.
13th International Congress of Inborn Errors of Metabolism., Rio-De-Janeiro, Brezilya, 5 - 08 Eylül 2017, cilt.5, (Özet Bildiri)
2017
201710. Oxysterol levels in Organic Acidemia patients: Preliminary results.
ERASLAN Y., LAY İ., SAMADİ A., DURSUN A., SİVRİ H. S., COŞKUN T.
13th International Congress of Inborn Errors of Metabolism., Rio-De-Janeiro, Brezilya, 5 - 08 Eylül 2017, cilt.5, (Özet Bildiri)
2017
201711. The clinical, biochemical features, and mutational analyses in glutaric acid type 1 patients
BİLGİNER GÜRBÜZ B., YILDIZ Y., GOKSOY E., YÜCEL YILMAZ D., DURSUN A., TOKATLI A., et al.
International Congress of Inborn Errorsof Metabolism - ICIEM 2017, 5 - 08 Eylül 2017, cilt.5, (Özet Bildiri)
2017
201712. Etilmelonik ensefalopati: vaka sunumu
PEKTAŞ E., Yoldaş T. Ç., BİLGİNER GÜRBÜZ B., YILDIZ Y., DURSUN A., SİVRİ H. S., et al.
XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Türkiye, 26 - 30 Nisan 2017, (Özet Bildiri)
2017
201713. Erişkinlerde kalıtsal metabolik hastalıklar: yatan hasta konsültasyonları ile üç yıllık deneyim
YILDIZ Y., PEKTAŞ E., BİLGİNER GÜRBÜZ B., DURSUN A., TOKATLI A., COŞKUN T., et al.
XIV. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Türkiye, 26 - 30 Nisan 2017, (Özet Bildiri)
2017
201714. Glutarik asiduri tip 1’li hastalarda oral motor ve yutma fonksiyon değerlendirmesi: Vaka serisi
SEREL ARSLAN S., ILGAZ F., DEMİR N., GÖKMEN ÖZEL H., KARADUMAN A. A., COŞKUN T.
14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, BODRUM, Türkiye, 26 - 30 Nisan 2017, (Özet Bildiri)
2017
201715. Tedavi Almayan Hiperfenilalaninemili Çocuklarda Nörokognitif Fonksiyonların Değerlendirilmesi: İlk Sonuçlar
PEKTAŞ E., Evinc G., FOTO ÖZDEMİR D., Karaboncuk Y., BİLGİNER GÜRBÜZ B., YILDIZ Y., et al.
14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Türkiye, 26 - 30 Nisan 2017, (Özet Bildiri)
2017
201716. Fenilketonürili bireylerde diyet enerji ve protein alımlarının antropometrik ölçümlere etkisi var mıdır?
YILMAZ Ö., BİLGİNER GÜRBÜZ B., YILDIZ Y., GÖKSOY E., DURSUN A., SİVRİ H. S., et al.
XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.149, (Özet Bildiri)
2017
201717. Fenilketonürili bireylerde Türkiye’ye Özgü Beslenme Rehberi’ne göre enerji ve bazı besin ögeleri alımının değerlendirilmesi
YILMAZ Ö., BİLGİNER GÜRBÜZ B., YILDIZ Y., GÖKSOY E., DURSUN A., SİVRİ H. S., et al.
XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.151, (Özet Bildiri)
2017
201718. Fenilketonürili bireylerde besin gruplarının enerji, protein ve fenilalanin alımına katkısı
YILMAZ Ö., BİLGİNER GÜRBÜZ B., YILDIZ Y., GÖKSOY E., DURSUN A., SİVRİ H. S., et al.
XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.150, (Özet Bildiri)
2017
201719. Fenilketonürili bireylerde beslenme ve diyet hasta destek programının değerlendirilmesi
GÖKMEN ÖZEL H., YILMAZ Ö., YILDIZ Y., GÖKSOY E., BİLGİNER GÜRBÜZ B., DURSUN A., et al.
XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.148, (Özet Bildiri)
2017
201720. Fenilketonürili bireylerin diyetle fenilalanin ve protein alımları: Önerilere uyum nasıldır?
YILMAZ Ö., BİLGİNER GÜRBÜZ B., YILDIZ Y., GÖKSOY E., DURSUN A., SİVRİ H. S., et al.
XIV Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, ss.152, (Özet Bildiri)
2016
201621. a rare form of mucopolysaccoridosis
BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., COŞKUN T., TOKATLI A.
MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)
2016
201622. presentation of classical galaktosemia with positive neborn screening
DURSUN A., bozat a., BİLGİNER GÜRBÜZ B., PEKTAŞ E., SİVRİ H. S., TOKATLI A., et al.
MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)
2016
201623. adult form metachormatic leuucodistrohy caused by a novel mutation
BİLGİNER GÜRBÜZ B., khasiyer f., KARLI OĞUZ H. K., karabudak r., DURSUN A., TOKATLI A., et al.
MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)
2016
201624. a rare lysosomal storage disease
COŞKUN T., canoruç d., BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., SİVRİ H. S., et al.
MEMG 13, 26 - 30 Ekim 2016, (Özet Bildiri)
2016
201625. Presentation of classic galactosemia with positive newborn screening for hyperphenylalaninemia
DURSUN A., YILDIZ Y., akın s., bozat a., YİĞİT Ş., BİLGİNER GÜRBÜZ B., et al.
13th Middle East Metabolic Group Meeting, 28 - 30 Ekim 2016, (Özet Bildiri)
2016
201626. Preliminary results of the study relevant to evaluating neurocognitive functions of untreated children with hyperphenylalaninemia
Evinç G., FOTO ÖZDEMİR D., ÖKTEM F., PEKTAŞ E., COŞKUN T., TOKATLI A., et al.
2016 annual multidisciplinary European Phenylketanuria Symposium, 7 - 08 Ekim 2016, (Özet Bildiri)
2016
201627. Preliminary results of the study relevant to evaluating neurocognitive functions of untreated children with hyperphenylalaninemia Rome Italy September 2016 2016 39 Suppl 1 S1 S34 P 164 DOI 10 1007 s10545 016 9970 9
Evinç G., FOTO ÖZDEMİR D., PEKTAŞ E., ÖKTEM F., SİVRİ H. S., COŞKUN T., et al.
SSIEM 2016 Annual Symposium, Roma, 4 - 10 Eylül 2016, (Özet Bildiri)
2016
201628. the fist case of phenylketonuria with tyrosinemai type III
COŞKUN T., BİLGİNER GÜRBÜZ B., DURSUN A., SİVRİ H. S., TOKATLI A.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
2016
201629. Late diagnosed phenylketonuria in an eight year old boy with dyslexia and attention deficit
DURSUN A., TOKATLI A., COŞKUN T., SİVRİ H. S., YILDIZ Y.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
2016
201630. Phenotypic variability and clinical biochemical histological andmolecular genetic characteristics of 17 patients with multipleacyl CoA dehydrogenase deficiency
TOKATLI A., BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., SİVRİ H. S., COŞKUN T.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
2016
201631. argininosüccinic acidüria associated with pancreatitis
DURSUN A., SİVRİ H. S., AKÇÖREN Z., TOKATLI A., COŞKUN T.
SSIEM, 6 - 09 Eylül 2016, (Özet Bildiri)
2016
201632. Prenatal findings and autopsy examination in a newborn with multipleacyl CoA dehydrogenase deficiency
DOKUZBOY S., TALİM B., YİĞİT Ş., SİVRİ H. S., TOKATLI A., DURSUN A., et al.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
2016
201633. Optic neuropathy a rare late complication in methylmalonicacidemia
BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., SİVRİ H. S., TOKATLI A., COŞKUN T.
SSIEM ROMA, 6 - 09 Eylül 2016, (Özet Bildiri)
2016
201634. Short term outcome of surgical correction of genu valgum in fourpatients with mucopolysaccharidosis type IV
SİVRİ H. S., aksoy m., BİLGİNER GÜRBÜZ B., PEKTAŞ E., DURSUN A., TOKATLI A., et al.
SSIEM RDMA, 6 Eylül - 09 Haziran 2016, (Özet Bildiri)
2016
201635. Adult mucopolysaccharidosis type VI patient with severe cervicalcord compression at diagnosis
SİVRİ H. S., mocan ö., DURSUN A., TOKATLI A., COŞKUN T.
SSIEM roma, 6 - 09 Eylül 2016, (Özet Bildiri)
2016
201636. Clinical use of plasma oxysterols for rapid diagnosis of Niemann Pick type C
LAY İ., ARDIÇLI D., Afshin S., AKBIYIK F., Serdaroğlu E., HALİLOĞLU V. G., et al.
SSIEM 2016, 6 - 09 Eylül 2016, cilt.39, (Özet Bildiri)
2016
201637. New biomarkers in the diagnosis of Niemann Pick Type C plasma levels of oxysterols
LAY İ., SAMADİ A., ARDIÇLI D., HALİLOĞLU V. G., YÜCE A., COŞKUN T., et al.
V. Congress of Lysosomal Disorders with International Participation, bODRUM, Türkiye, 14 - 17 Nisan 2016, (Tam Metin Bildiri)
2016
201638. Two cases with mucopolysaccharidosis type VII
Sivri S., Pektas E., YILDIZ Y., DURSUN A., TOKATLI A., COŞKUN T.
12th Annual WORLD Symposium, California, Amerika Birleşik Devletleri, 29 Şubat - 04 Mart 2016, cilt.117, (Özet Bildiri)
2015
201539. Hyperlysinemia in a child and his mother
PEKTAŞ E., Burcu h., Özlem u., DURSUN A., SİVRİ H. S., TOKATLI A., et al.
SSIEM, 4 - 07 Eylül 2015
2015
201540. Two Cases with Mucopolysaccharidosis Type VII Sly s Syndrome
SİVRİ H. S., PEKTAŞ E., DURSUN A., TOKATLI A., COŞKUN T.
SSIEM, 4 - 07 Eylül 2015
2015
201541. Mutation screening study in Turkish patients with L 2 hydroxyglutaric aciduria
YÜCEL YILMAZ D., ÖZGÜL R. K., Özlem u., COŞKUN T., SİVRİ H. S., TOKATLI A., et al.
SSIEM, 4 - 07 Eylül 2015
2015
201542. Partial biotinidase deficiency with late onset severe cutaneous manifestations
SİVRİ H. S., yıldız Y., PEKTAŞ E., KK C., ALEHAN D., DURSUN A., et al.
SSIEM, 4 - 07 Eylül 2015
2015
201543. Coexistence of phenylketonuria and primary adrenal insufficiency
COŞKUN T., PEKTAŞ E., GG b., DURSUN A., SİVRİ H. S., TOKATLI A.
SSIEM, 4 - 07 Eylül 2015
2015
201544. A rare metabolic disease succinic semialdehyde dehydrogenase deficiency
TOKATLI A., PEKTAŞ E., yıldız Y., Özlem u., DURSUN A., SİVRİ H. S., et al.
SSIEM, 4 - 07 Eylül 2015
2015
201545. Türk Hastalarda Biyotinidaz Gen Mutasyonlarının Moleküler Karakterizasyonu
KARACA M., ÖZGÜL R. K., Ünal Ö., YÜCEL YILMAZ D., Kılıç M., Burcu H., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015, (Özet Bildiri)
2015
201546. Türk İzovalerik Asidemi Hastalarında Genotip Fenotip İlişkisi
Kılıç M., ÖZGÜL R. K., KARACA M., Küçük Ö., YÜCEL YILMAZ D., ALİEFENDİOĞLU D., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015, (Özet Bildiri)
2015
201547. Klasik Glutarik Asidüri Tip I GA I Bulguları Göstermeyen Bir Ailede GCDH Gen Defekti
ÖZGÜL R. K., YÜCEL YILMAZ D., SANİYE Ö., YALNIZOĞLU D., TURANLI G., ESRA S., et al.
Uluslararası Katılımlı XIII.Ulusal Metabolik Hastalıklar Ve Beslenme Kongresi, Türkiye, 14 - 18 Nisan 2015
2015
201548. Two adult siblings with progressive walking difficulty and visual disturbances
SİVRİ H. S., YILDIZ Y., Kiper P. O. S., DURSUN A., TOKATLI A., COŞKUN T.
11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114, (Özet Bildiri)
2012
201249. AUDIOLOGICAL OUTCOMES OF MPS II: BEFORE AND AFTER ENZYME REPLACEMENT THERAPY
YİĞİT Ö., ÜNAL Ö., GENÇ G. A., HİŞMİ B., DURSUN A., TOKATLI A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE, 20 Ekim 2012, cilt.35, ss.145, (Özet Bildiri)
2012
201250. Üre döngüsü bozukluklarına ikincil neonatal hiperamonemik koma tedavisinde ammonul sodyum benzoat ve sodyum fenilasetat kullanımı
ÜNAL Ö., HİŞMİ B., SÜRMELİ ONAY Ö., TOKATLI A., SİVRİ H. S., DURSUN A., et al.
20. Ulusal Neonatoloji Kongresi (UNEKO-20), Türkiye, 15 - 18 Nisan 2012
2010
201051. Early diagnosis of homocystinuria in a newborn with mosaic Turner syndrome and immune hydrops fetalis
SÜRMELİ ONAY Ö., Öztürk Hışmi B., TAKCI Ş., YİĞİT Ş., COŞKUN T.
2nd International Congress of UENPS, 15 - 17 Kasım 2010, cilt.86, ss.120
2009
200952. Factors affecting serum coenzyme Q10 levels in patients with hyperphenylalaninemia
COŞKUN T., Çakmaklı H. F., DİKMEN D., Akyıldız M.
European Society for Phenylketonuria Annual Conference, 30 Ekim - 01 Kasım 2009
2008
200853. Sialik Asit Depo Hastalığının Belirlenmesinde Nükleer Manyetik Rezonans Spektroskopisi
UZGÖREN BARAN A., AKBAY N., DURSUN A., COŞKUN T., İMAMOĞLU Y.
Metabolizmanın Regülasyonu ve Metabolik Bozukluklar Lisansüstü Yaz Okulu, Trabzon, Türkiye, 29 Haziran - 06 Temmuz 2008
2007
200754. Molecular basis of cystinosis in Turkish patients
TOPALOĞLU R., Tinloy B., COŞKUN T., Gunay-Aygun M., Jeong A., BAKKALOĞLU A., et al.
44th ERA-EDTA Congress, Barcelona, İspanya, 22 - 24 Haziran 2007, cilt.22, ss.30-31, (Özet Bildiri)
2006
200655. Comprehensive analysis reveals distinct mtDNA features in Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (MNGIE)
Kocaefe Y. C., Erdem-Oezdamar S., Sivri H. S., Coskun T., Tan E., Oezguec M.
11th International Congress on Neuromuscular Diseases, İstanbul, Türkiye, 2 - 07 Temmuz 2006, cilt.16, (Özet Bildiri)
Kitaplar
2011
20111. Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.
KILIÇ M., ÖZGÜL R. K., COŞKUN T., YÜCEL YILMAZ D., KARACA M., SİVRİ H. S., et al.
JIMD Reports Case and Research Reports 2011 3, , Editör, SPRINGER, 2011
Desteklenen Projeler
2017 - 2020
2017 - 2020Organik Asidemi Hastalarında Oksisterollerin LC-MS/MS Yöntemi ile İncelenmesi
Yükseköğretim Kurumları Destekli Proje , BAP Diğer
COŞKUN T. (Yürütücü), LAY İ., SAMADİ A., Eraslan Y.
2017 - 2019
2017 - 2019İskelet Displazilerinde Genetik Etiyolojinin Belirlenmesi
Yükseköğretim Kurumları Destekli Proje , BAP Araştırma Projesi
ŞİMŞEK KİPER P. Ö. (Yürütücü), GÖNÇ E. N., KABAÇAM S., KARABULUT E., ÜTİNE G. E., COŞKUN T., et al.
2017 - 2018
2017 - 2018Bilinen metabolik hastalıklar ve sendromlar ile ilişkilendirilemeyen konjenital/gelişimsel kataraktlarda yeni nesil dizileme ile moleküler etiyolojinin araştırılması
Yükseköğretim Kurumları Destekli Proje , BAP Diğer
TAYLAN ŞEKEROĞLU H. (Yürütücü), COŞKUN T., ÜTİNE G. E.