Yayınlar & Eserler

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Long-term clinical evaluation of patients with alpha-mannosidosis – A multicenter study

KÖSE E., KASAPKARA Ç. S., İNCİ A., YILDIZ Y., Sürücü Kara İ., Kahraman A. B., et al.
European Journal of Medical Genetics , cilt.68, 2024 (SCI-Expanded) identifier identifier

Is lysosomal acid lipase activity associated with the presence and severity of coronary artery disease? Steht die Aktivität der lysosomalen sauren Lipase in Zusammenhang mit dem Vorliegen und dem Schweregrad einer koronaren Herzkrankheit?

Kızıltunç E., Gökalp S., Biberoğlu G., Yalçın Y., Cihan B., Öktem R. M., et al.
Herz , cilt.49, sa.1, ss.75-80, 2024 (SCI-Expanded) Creative Commons License identifier identifier identifier

Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia

Öktem R. M., İnci A., BAYRAK H., DEMİR F., BİBEROĞLU G., Maviş M. E., et al.
Molecular Syndromology , 2024 (SCI-Expanded) identifier identifier

Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease

Karagol H. I. E., İnci A., Terece S. P., Kılıç A., Demir F., Yapar D., et al.
International Archives of Allergy and Immunology , cilt.184, sa.4, ss.370-375, 2023 (SCI-Expanded) Creative Commons License identifier identifier identifier

A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation

Yıldız Ç., Gezgin Yıldırım D., İnci A., Tümer L., Ergin F. B., Sunar Yayla E. N. S., et al.
Joint Bone Spine , cilt.90, sa.1, 2023 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy

Emecen Sanli M., Kılıç A., İnci A., Okur İ., Ezgü F. S., Tümer L.
Journal of Pediatric Endocrinology and Metabolism , 2023 (SCI-Expanded) Creative Commons License identifier identifier identifier

Does Metformin Treatment in Pediatric Population Cause Vitamin B12 Deficiency?

Tas O., Kontbay T., DOĞAN Ö., KÖSE E., BERBEROĞLU M., ŞIKLAR Z., et al.
KLINISCHE PADIATRIE , cilt.234, ss.221-227, 2022 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Assessment of auditory functions in patients with hepatic glycogen storage diseases

ŞANLI M. E., YILDIRIM GÖKAY N., TUTAR H., GÜNDÜZ B., ÖZSAYDI AKTAŞOĞLU E., KILIÇ A., et al.
TURKISH JOURNAL OF PEDIATRICS , cilt.64, sa.4, ss.658-670, 2022 (SCI-Expanded) Creative Commons License identifier identifier identifier identifier

Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1

ŞANLI M. E., Cengiz B., Kilic A., Ozsaydi E., Inci A., Okur İ., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, sa.4, ss.497-503, 2022 (SCI-Expanded) identifier identifier identifier

Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability

İnci A., Kılıç Yıldırım G., Cengiz Ergin F. B., Sarı S., Eğritaş Gürkan Ö., Okur İ., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, sa.4, ss.451-462, 2022 (SCI-Expanded) identifier identifier identifier

Investigating myelin oligodendrocyte glycoprotein antibodies in hereditary citrullinemia

Oncel I., Yousefi M., İNCİ A., ARSLAN GÜLTEN Z., TEKE KISA P., Karaca M., et al.
MEDICAL HYPOTHESES , cilt.160, 2022 (SCI-Expanded) identifier identifier

An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochon- drial DNA depletion syndrome with a novel mutation

İNCİ A., OKUR İ., DEMİR E., BİBEROĞLU G., TÜMER L., SERDAROĞLU A., et al.
NEUROLOGY ASIA , cilt.27, sa.1, ss.199-202, 2022 (SCI-Expanded) identifier identifier

First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient

Sanli M. E., ERTOY KARAGÖL H. İ., KILIÇ A., Aktasoglu E., İNCİ A., OKUR İ., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.35, sa.2, ss.273-277, 2022 (SCI-Expanded) identifier identifier identifier

The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis

İNCİ A., Aktas E., Cengiz Ergin F. B., OKUR İ., BİBEROĞLU G., EZGÜ F. S., et al.
JOURNAL OF PARENTERAL AND ENTERAL NUTRITION , cilt.45, sa.8, ss.1788-1792, 2021 (SCI-Expanded) identifier identifier identifier

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series

İnci A., Okur İ., Tümer L., Biberoğlu G., Öktem M., Ezgü F. S.
ORPHANET JOURNAL OF RARE DISEASES , cilt.16, sa.1, 2021 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features

İNCİ A., Cengiz B., BİBEROĞLU G., OKUR İ., ARHAN E., ÖNER A. Y., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.185, sa.9, ss.2739-2747, 2021 (SCI-Expanded) identifier identifier identifier

Ultra-Rare Disorder in a Young Girl with Lipodystrophy: Analbuminemia

İNCİ A., Arslan B., OKUR İ., BİBEROĞLU G., ŞANLI M. E., ÖZSAYDI AKTAŞOĞLU E., et al.
INDIAN JOURNAL OF PEDIATRICS , cilt.88, ss.723-0, 2021 (SCI-Expanded) identifier identifier identifier

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

İnci A., Ergin F. B., Yüce B. T., Çiftçi B., Demir E., Buyan N., et al.
JOURNAL OF BONE AND MINERAL METABOLISM , cilt.39, sa.4, ss.598-605, 2021 (SCI-Expanded) identifier identifier identifier

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

Olgac A., OKUR İ., BİBEROĞLU G., EZGÜ F. S., TÜMER L.
BALKAN JOURNAL OF MEDICAL GENETICS , cilt.24, sa.1, ss.103-105, 2021 (SCI-Expanded) Creative Commons License identifier identifier identifier

Autism: Screening of inborn errors of metabolism and unexpected results

İnci A., Özaslan A., Okur İ., Biberoğlu G., Güney E., Ezgü F. S., et al.
AUTISM RESEARCH , cilt.14, sa.5, ss.887-896, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

The chemical chaperone 4-phenylbutyrate enhances alpha-galactosidase activity subsequent to stop-codon read-through therapy with triamterene in Fabry R227X fibroblasts

Dündar H., Biberoğlu G., İnci A., Işık Gönül İ., Okur İ., Tümer L., et al.
MOLECULAR GENETICS AND METABOLISM , cilt.132, sa.2, 2021 (SCI-Expanded) identifier

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

İNCİ A., ERGİN F. B., BİBEROĞLU G., OKUR İ., EZGÜ F. S., TÜMER L.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.6, ss.805-812, 2021 (SCI-Expanded) identifier identifier identifier

Familial hyperphosphatemic tumoral calcinosis in an unusual and usual sites and dramatic improvement with the treatment of acetazolamide, sevelamer and topical sodium thiosulfate

ŞANLI M. E., KILIÇ A., ÖZSAYDI AKTAŞOĞLU E., İNCİ A., OKUR İ., Ezgu F. S., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.34, sa.6, ss.813-816, 2021 (SCI-Expanded) identifier identifier identifier

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, sa.4, ss.233-241, 2020 (SCI-Expanded) identifier identifier identifier

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

Olgac A., İNCİ A., OKUR İ., Ezgu F. S., BİBEROĞLU G., Turner L.
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN , cilt.29, sa.12, ss.1207-1211, 2019 (SCI-Expanded) Creative Commons License identifier identifier identifier

A new NBIA patient from Turkey with homozygous C19ORF12 mutation.

Kasapkara C. S., TÜMER L., Gregory A., Ezgu F. S., İNCİ A., Derinkuyu B. E., et al.
Acta neurologica Belgica , cilt.119, sa.4, ss.623-625, 2019 (SCI-Expanded) Creative Commons License identifier identifier identifier

A 7-YEAR-OLD BOY WITH HAND TREMORS AND A NOVEL MUTATION FOR L-2-HYDROXYGLUTARIC ACIDURIA

Olgac A., Orgun T. L., Ezgu F. S., Biberoglu G., Tumer L.
BALKAN JOURNAL OF MEDICAL GENETICS , cilt.22, sa.2, ss.93-96, 2019 (SCI-Expanded) Creative Commons License identifier identifier identifier

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. A., BİBEROĞLU G., et al.
Gene , cilt.687, ss.280-288, 2019 (SCI-Expanded) identifier identifier identifier

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, sa.5, ss.355-359, 2018 (SCI-Expanded) identifier identifier identifier

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, sa.3, ss.243-245, 2018 (SCI-Expanded) identifier identifier identifier

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.

Kasapkara C. S., TÜMER L., Zanetti N., Ezgu F. S., Lamantea E., Zeviani M.
Turkish journal of haematology : official journal of Turkish Society of Haematology , cilt.34, sa.4, ss.376-377, 2017 (SCI-Expanded) Creative Commons License identifier identifier identifier

Audiologic evaluations of children with mucopolysaccharidosis

Gokdogan C., Altınyay Ş., Gokdogan O., Tutar H., Gündüz B., Okur İ., et al.
BRAZILIAN JOURNAL OF OTORHINOLARYNGOLOGY , cilt.82, sa.3, ss.281-284, 2016 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

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, sa.3, ss.400-405, 2015 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Secondary Hemophagocytosis in Propionic Acidemia

Kasapkara C. S., Kangin M., Ozmen B. O., Ozbek M. N., Demir R., Karatas M., et al.
IRANIAN JOURNAL OF PEDIATRICS , cilt.25, sa.3, 2015 (SCI-Expanded) Creative Commons License identifier identifier

Diagnostic Dilemma: Osteopetrosis with superimposed rickets causing Neonatal Hypocalcemia

Olgac A., TÜMER L., Boyunaga Ö. L., Kizilkaya M., Hasanoglu A.
JOURNAL OF TROPICAL PEDIATRICS , cilt.61, sa.2, ss.146-150, 2015 (SCI-Expanded) Creative Commons License identifier identifier identifier

BCS1L gene mutation causing GRACILE syndrome: case report

Kasapkara C. S., TÜMER L., EZGÜ F. S., Kucukcongar A., Hasanoglu A.
RENAL FAILURE , cilt.36, sa.6, ss.953-954, 2014 (SCI-Expanded) Creative Commons License identifier identifier identifier

Vitamin A status and factors associated in healthy school-age children

VURALLI KARAOĞLAN D., TÜMER L., Hasanoglu A., BİBEROĞLU G., PAŞAOĞLU H.
CLINICAL NUTRITION , cilt.33, sa.3, ss.509-512, 2014 (SCI-Expanded) identifier identifier identifier

Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

Piras R., Chiappe F., La Torraca I., Buers I., Usala G., Angius A., et al.
HUMAN MUTATION , cilt.35, sa.4, ss.424-433, 2014 (SCI-Expanded) identifier identifier identifier

Home sleep study characteristics in patients with mucopolysaccharidosis

Kasapkara C. S., TÜMER L., ASLAN A. T., Hasanoglu A., EZGÜ F. S., Kucukcongar A., et al.
SLEEP AND BREATHING , cilt.18, sa.1, ss.143-149, 2014 (SCI-Expanded) identifier identifier identifier

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing

Ezgu F. S., Ciftci B., Topcu B., Adiyaman G., Gokmenoglu H., Kucukcongar A., et al.
METABOLIC BRAIN DISEASE , cilt.29, sa.1, ss.211-213, 2014 (SCI-Expanded) identifier identifier identifier

Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation

Gucuyener K., Kasapkara C. S., TÜMER L., Verbeek M. M.
ANNALS OF INDIAN ACADEMY OF NEUROLOGY , cilt.17, sa.2, ss.234-236, 2014 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?

TÜMER L., Kasapkara C. S., BİBEROĞLU G., Ezgu F. S., Hasanoglu A.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.26, sa.11-12, ss.1149-1152, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

DGUOK-Related Mitochondrial DNA Depletion Syndrome in a Child With an Early Diagnosis of Glycogen Storage Disease

Kasapkara C. S., TÜMER L., Kuecuekcongar A., Hasanoglu A., Seneca S., De Meirleir L.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION , cilt.57, sa.5, 2013 (SCI-Expanded) identifier identifier identifier

Sleep study characteristics in patients with mucopolysaccharidosis

ASLAN A. T., Kasapkara C., TÜMER L., Hasanoglu A., Ezgu F. S.
EUROPEAN RESPIRATORY JOURNAL , cilt.42, 2013 (SCI-Expanded) identifier

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-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

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, sa.4, ss.428-433, 2013 (SCI-Expanded) identifier identifier identifier

Rhabdomyolysis and acute kidney injury in two children: Questions

Fidan K., Kandur Y., TÜMER L., Hasanoglu A., Soylemezoglu O.
PEDIATRIC NEPHROLOGY , cilt.28, sa.6, ss.899-902, 2013 (SCI-Expanded) identifier identifier

Apheresis-inducible cytokine pattern change in children with homozygous familial hypercholesterolemia

Kucukcongar A., Yenicesu I., TÜMER L., Kasapkara C. S., EZGÜ F. S., Pasaoglu O., et al.
TRANSFUSION AND APHERESIS SCIENCE , cilt.48, sa.3, ss.391-396, 2013 (SCI-Expanded) identifier identifier identifier

Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I

Kasapkara C. S., TÜMER L., BİBEROĞLU G., Kasapkara A., Hasanoglu A.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.26, ss.427-431, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

AN EXTREMELY RARE CASE: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA

Kasapkara C. S., Kucukcongar A., BOYUNAGA Ö. L., Bedir T., Oncu F., Hasanoglu A., et al.
GENETIC COUNSELING , cilt.24, sa.1, ss.69-74, 2013 (SCI-Expanded) identifier identifier identifier

SRD5A3-CDG: A patient with a novel mutation

Kasapkara C. S., TÜMER L., EZGÜ F. S., Hasanoglu A., Race V., Matthijs G., et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY , cilt.16, sa.5, ss.554-556, 2012 (SCI-Expanded) identifier identifier identifier

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, sa.1, ss.35-37, 2012 (SCI-Expanded) identifier identifier identifier

Frequency of vitamin D insufficiency in healthy children between 1 and 16 years of age in Turkey

Akman A. O., TÜMER L., Hasanoglu A., Ilhan M., Cayci B.
PEDIATRICS INTERNATIONAL , cilt.53, sa.6, ss.968-973, 2011 (SCI-Expanded) identifier identifier identifier

Analysis of acylcarnitine levels by tandem mass spectrometry in epileptic children receiving valproate and oxcarbazepine

CANSU A., SERDAROĞLU A., BİBEROĞLU G., TÜMER L., HIRFANOĞLU T., EZGÜ F. S., et al.
EPILEPTIC DISORDERS , cilt.13, sa.4, ss.394-400, 2011 (SCI-Expanded) identifier identifier identifier

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

Oguz S. S., Ergenekon E., TÜMER L., KOÇ E., Turan O., Onal E. E., et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.24, sa.9-10, ss.843-845, 2011 (SCI-Expanded) identifier identifier identifier

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, sa.5, ss.522-527, 2011 (SCI-Expanded) identifier identifier identifier

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

Eminoglu T. F., TÜMER L., OKUR İ., EZGÜ F. S., BİBEROĞLU G., Hasanoglu A.
FORENSIC SCIENCE INTERNATIONAL , cilt.210, 2011 (SCI-Expanded) identifier identifier identifier

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, sa.6, ss.799-801, 2011 (SCI-Expanded) identifier identifier identifier

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, sa.1, ss.225-231, 2011 (SCI-Expanded) Creative Commons License identifier identifier identifier

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation

Baris Z., Eminoglu T., DALGIÇ B., TÜMER L., Hasanoglu A.
EUROPEAN JOURNAL OF PEDIATRICS , cilt.169, sa.11, ss.1375-1378, 2010 (SCI-Expanded) identifier identifier identifier

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, sa.4, ss.478-481, 2009 (SCI-Expanded) identifier identifier identifier

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 , sa.24, ss.3237-3239, 2008 (SCI-Expanded) identifier identifier identifier

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, sa.3, ss.235-240, 2008 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control?

Emecen Şanlı M., Aktaş E., İnci A., Okur İ., Ezgü F. S., Tümer L.
GUNCEL PEDIATRI , cilt.21, 2023 (ESCI) Creative Commons License identifier identifier

Simultaneous succinylacetone-nitisinone measurement in tyrosinemia type I patients and evaluation of the nitisinone therapeutic range

Öktem R. M., İnci A., Biberoğlu G., Okur İ., Ezgü F. S., Tümer L.
Biochimica Clinica , cilt.47, sa.3, ss.340-345, 2023 (Scopus) identifier

MİTOKONDRİYAL HASTALIK NEDENİYLE TETKİK EDİLEN HASTALARDA M.16189T>C DEĞİŞİKLİĞİNİN METABOLİK SENDROM AÇISINDAN İNCELENMESİ

İNCİ A., Hasanoğlu A., OKUR İ., BİBEROĞLU G., TÜMER L., EZGÜ F. S.
Kocatepe Tıp Dergisi , cilt.23, sa.3, ss.322-325, 2022 (Hakemli Dergi)

m.3010G>A Değişikliğinin Türk Populasyonunda Siklik Kusma Sendromuna Etkisi

ERGİN F. B., İNCİ A., OKUR İ., BİBEROĞLU G., TÜMER L., EZGÜ F. S.
Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi , 2022 (Hakemli Dergi)

PROPIONYLCARNITINE AND FREE CARNITINE ARE NEW BIOMARKERS IN THE FOLLOW-UP PERIOD OF MUCOPOLYSACCARIDOSIS TO SCREEN OXIDATIVE STRESS

İNCİ A., OLGAÇ A., GENÇ DERİN B., BİBEROĞLU G., OKUR İ., EZGÜ F. S., et al.
Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi , cilt.28, sa.4, ss.565-571, 2021 (Hakemli Dergi) identifier

Do cytokines play role in the pathogenesis of mucopolysaccharidosis

İNCİ A., OLGAÇ KILIÇKAYA M. A. B., YILMAZ DEMİRTAŞ C., OKUR İ., BİBEROĞLU G., EZGÜ F. S., et al.
Medicine Science , cilt.10, sa.4, ss.1492-1497, 2021 (Hakemli Dergi) identifier

The Evaluation of Skeletal Manifestations in Patients with Gaucher Disease

Kasapkara C. S., Olgac A., OKUR İ., EZGÜ F. S., TÜMER L.
JOURNAL OF PEDIATRIC RESEARCH , cilt.8, sa.3, ss.257-261, 2021 (ESCI) identifier identifier

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, sa.2, ss.276-278, 2018 (ESCI) identifier identifier identifier

"Double Hit" Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

Olgac A., TÜMER L., Ceylaner S., BİBEROĞLU G., Hasanoglu A.
JOURNAL OF PEDIATRIC RESEARCH , cilt.5, sa.1, ss.47-50, 2018 (ESCI) identifier

Acute Stroke in a Patient with Mucopolysaccharidosis Type I with Increased Carotid Intima-Media Thickness

Olgac A., TÜMER L., Damar C., Hasanoglu A., Ezgu F. S.
EURASIAN JOURNAL OF MEDICINE AND ONCOLOGY , cilt.2, sa.2, ss.114-116, 2018 (ESCI) identifier

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, sa.1, ss.1-5, 2017 (ESCI) identifier

Clinical course and outcome of glycogen-storage disease type 1a and type 1b

Eminoglu F. T., TÜMER L., OKUR İ., EZGÜ F. S., Hasanoglu A.
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS , cilt.48, sa.2, ss.117-122, 2013 (ESCI) Creative Commons License identifier identifier

L carnitine L propionyl carnitine and malondialdehyde levels of pediatric patients with solid tumor

OKUR A., HASANOĞLU A., OĞUZ A., BİBEROĞLU G., ERTEM U., TÜMER L.
JOURNAL OF PEDİATRİC SCİENCES , cilt.4, sa.3, 2012 (Hakemli Dergi)

Analysis Of Acylcarnitine Profiles In Children With Idiopathic Epilepsy Using Valproic Acid

Hırfanoğlu T., Serdaroğlu A., Biberoğlu G., Tümer L., Cansu A., Gücüyener K., et al.
GAZI MEDICAL JOURNAL , cilt.17, sa.3, ss.0-159, 2006 (Scopus) Creative Commons License identifier identifier

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Glikojen Depo Tip 1 Hastalığında Lif Takviyesinin Metabolik Kontrole Etkisi

Emecen Şanlı M., Aktaş E., İnci A., Okur İ., Ezgü F. S., Tümer L.
I. Ulusal Çocuk Beslenme Kongresi, Gaziantep, Türkiye, 25 Ekim 2023 Creative Commons License

Fenilketonüri Tanısı İle İzlenen Hastalarda Visseral Adipositenin Değerlendirilmesi

Gökalp S., Bostancı F., Aktaş E., İnci A., Okur İ., Ezgü F. S., et al.
I. Ulusal Çocuk Beslenme Kongresi, Gaziantep, Türkiye, 25 Ekim 2023 Creative Commons License

Bone Turnover in Patients with Lysosomal Storage Disorders

Gökalp S., İnci A., Okur İ., Ezgü F. S., Tümer L.
Annual Symposium 2023, Jerusalem, Yerushalayim, İsrail, 29 Ağustos - 01 Eylül 2023 Creative Commons License

EVENT BASED TREATMENT OUTCOMES OF PATIENTS WITH GAUCHER DISEASE: ADIFFERENT PERSPECTIVE

Kilic A., İnci A., Okur İ., Tümer L., Ezgü F. S.
Annual Symposium 2023, Jerusalem, Yerushalayim, İsrail, 29 Ağustos 2023 Creative Commons License

Intestinal Microbiota Composition of Children with Glycogen Storage Disease Type 1

Gökalp S., Dinleyici E. Ç., Muluk C., İnci A., Aktaş E., Okur İ., et al.
SSIEM 2023, Yerushalayim, İsrail, 29 Ağustos 2023 Creative Commons License

Long-term Clinical Evaluation of Patients with Alpha-mannosidosis – A Multicenter Study

Köse E., Kasapkara Ç. S., İnci A., Yıldız Y., Surucu Kara L., Kahraman A. B., et al.
Annual Symposium 2023, Jerusalem, Yerushalayim, İsrail, 29 Ağustos 2023 Creative Commons License

Pterin Profiling in Serum, Dry Blood Spot and Urine using LC-MS/MS in Patients withHyperphenylalaninemia

Öktem R. M., İnci A., Bayrak H., Demir F., Biberoğlu G., Mavis M. E., et al.
Annual Symposium 2023, Jerusalem, Yerushalayim, İsrail, 29 Ağustos 2023 Creative Commons License

An Alternative for Early Detection of Cardiac Involvement in Gaucher Type 1 Disease: Speckle Tracking Echocardiograpy

GÖKALP S., ÜNLÜ S., İNCİ A., OKUR İ., EZGÜ F. S., TÜMER L.
Annual Symposium SSIEM 2023, İsrail, 29 Ağustos - 01 Eylül 2023

Metabolik Hastalıklarda EEG Paternleri: Diagnostik Önemi ve Klinik Yararı (PS-222)

Kılıç R. K., Hırfanoğlu T., Kılıç A., Tümer L., Arhan E.
24. Ulusal Çocuk Nörolojisi Kongresi 17-21 Mayıs 2023, Muğla, Muğla, Türkiye, 17 - 21 Mayıs 2023, cilt.1, ss.397 Creative Commons License

3-O Metil Dopa ölçümü ile AADC eksikliği taraması

Öktem R. M., Biberoğlu G., İnci A., Okur İ., Ezgü F. S., Tümer L.
KBUD Kongre, Lab EXPO 2022, Antalya, Türkiye, 03 Ekim 2022

Lysosphingolipids in the screening of sphingolipidoses

Öktem R. M., İnci A., Biberoğlu G., Okur İ., Ezgü F. S., Tümer L.
360 LYSOSOME_FEBS Advanced Lecture Course_2022, İzmir, Türkiye, 04 Ekim 2022

Retargeting phenylbutyrate, ursodeoxycholic acid, pyrimethamine and betaine for beta-glucocerebrosidaserecovery in gaucher disease fibroblasts resulting from homozygous p.L483P mutation

Kiliç A., BİBEROĞLU G., ÖKTEM R. M., İNCİ A., Aydogdu S., Udgu Isik B., et al.
SSIEM Annual Symposium, Almanya, 30 Ağustos - 02 Eylül 2022, sa.1418955

Mukopolisakkaridoz Tip IVA Tanılı Hastalarda Enzim Replasman Tedavisine Bağlı Anafilaksi ve Yönetimi: Tek Merkez Deneyimi

ERTOY KARAGÖL H. İ., BAKIRTAŞ A., POLAT TERECE S., İNCİ A., EZGÜ F. S., TÜMER L., et al.
4. Genç Pediatrik Alerjistler Sempozyumu, Türkiye, 19 Mayıs 2022

Kalıtsal metabolik hastalık tanısı ile takıp edılen hastalın solunum sıstemı bulguları

HOCOĞLU Z. İ., RAMASLI GÜRSOY T., ŞİŞMANLAR EYÜBOĞLU T., ASLAN A. T., TÜMER L.
Türk Toraks Derneği 24. Yıllık Kongre 2021, Türkiye, 17 Kasım 2021

Respiratory system involvement and follow-up of children with inherited metabolic diseases

HOCOĞLU Z. İ., RAMASLI GÜRSOY T., ŞİŞMANLAR EYÜBOĞLU T., ASLAN A. T., TÜMER L.
European Respiratory Virtual Congress 2021, İspanya, 5 - 08 Eylül 2021 identifier

Gaucher Tip I Hastalığında Kardiyak Tutulumun Erken Saptanması için Bir Alternatif: Speckle Tracking Ekokardiyografi

GÖKALP S., ÜNLÜ S., İNCİ A., OKUR İ., EZGÜ F. S., TAÇOY G., et al.
VII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi 25-27 Kasım 2021 Çevrimiçi Kongre http://lizozomal2021.org/, Türkiye, 25 - 27 Kasım 2021

MPS 6 Hastalarında Klinik Bulgular, ERT önce ve Sonrası Olay Bazlı Değerlendirme

İNCİ A., OKUR İ., TÜMER L., BİBEROĞLU G., ÖKTEM R. M., EZGÜ F. S.
VII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Türkiye, 25 - 27 Kasım 2021

İNFANTİL TİP POMPE HASTALIĞI ULUSAL KONSENSUS ÇALIŞMASI

Aktaşoğlu E., İNCİ A., OKUR İ., BİBEROĞLU G., ÖKTEM R. M., EZGÜ F. S., et al.
VII. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Türkiye, 25 - 27 Kasım 2021

Pompe Hastalarında Enzim Replasman Tedavisine Bağlı Anafilaksi ve Yönetimi:Tek Merkez Deneyim

ERTOY KARAGÖL H. İ., İNCİ A., Polat Tecere S., KILIÇ A., Demir F., YAPAR D., et al.
XXVIII. Ulusal Alerji ve Klinik İmmünoloji kongresi, Türkiye, 13 - 17 Ekim 2021

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

Dündar H., Udgu B., Biberoğlu G., Inci A., Ezgu F. S., Işık Gönül İ., et al.
16th Annual Research Meeting of the WORLDSymposium(TM), Florida, Amerika Birleşik Devletleri, 10 - 14 Şubat 2020, cilt.129 identifier

Benefficial effects of Modified Atkins Diet in Glygocen Storage Disorder Type IIIa

OLGAÇ KILIÇKAYA M. A. B., İNCİ A., OKUR İ., KASAPKARA Ç. S., BİBEROĞLU G., OĞUZ A. D., et al.
SSIEM Annual Symposium 2019, Rotterdam, Hollanda, 3 - 06 Eylül 2019

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

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

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

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

EMİNOĞLU F. T., Sevinç S., Karaköse Gök T., EZGÜ F. S., İNCİ A., TÜMER L.
Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 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

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

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

Hyperinsulinemic Hypoglycemia: Think of GLUD1 dgene mutation leading to Hyperinsulinemic hyperammonemia (HI/HA syndrome)

EMECAN ŞANLI M., KILIÇ A., AKTAŞOĞLU E., İNCİ A., OKUR İ., TÜMER L., et al.
INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS 10 - 14 April 2019 Istanbul-Turkey, Türkiye, 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

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

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

RAR2mutation in two siblingswith microcephaly,seizures and liver involvement

EMİNOĞLU F. T., s s., gök t., EZGÜ F. S., İNCİ A., TÜMER L.
15 th MEMG, Beyrut, Lübnan, 29 Kasım - 02 Aralık 2018

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. T., EZGÜ F. S., et al.
SSIEM, 4 - 07 Eylül 2018

RENAL INVOLMENT IN FABRY DİSEASE

İNCİ A., BİBEROĞLU G., PAŞAOĞLU Ö. T., TÜMER L., PAŞAOĞLU H., EZGÜ F. S.
14 th middle east metabolic group (MEMG) meeting Athens GREECE, Atina, Yunanistan, 9 - 11 Şubat 2018

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

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

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

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

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

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

Niemann Pick type C diagnostic methods and survey: National Intervention-Free INSPECT registration study protocolpresentation

ARDIÇLI D., ÖNENLİ MUNGAN H. N., ÇOKER M., TÜMER L., GÜNDÜZ M., TOPALOĞLU TEKTÜRK P., et al.
ICIEM 2017 13th International Congress of Inborn Errors of Metabolism, Brezilya, 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 Creative Commons License

Ciddi hiperammonemi ve hipoglisemi ile giden karnitin-açil translokaz olgusu

İNCİ A., OLGAÇ KILIÇKAYA M. A. B., OKUR İ., AKKUZU E., BİBEROĞLU G., EZGÜ F. S., et al.
14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 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

Dündar H., Biberoğlu 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 identifier

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

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 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

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

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

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

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

Evaluation of vitamin D levels in paediatric cancer patients

KARADENİZ C., Bilgin N., PAŞAOĞLU Ö. T., PINARLI F. G., OKUR A., PAŞAOĞLU H., et al.
48th congress of the International Society of Paediatric Oncology (SIOP), Dublin, İrlanda, 19 - 22 Ekim 2016 Sürdürülebilir Kalkınma

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

İNCİ A., Genç B., Demirtaş C., Udgu B., KARAOĞLU A., OKUR İ., et al.
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

KARAOĞLU A., İNCİ A., BİBEROĞLU G., OKUR İ., Kılıçkaya A., KELEŞ E., et al.
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

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

İNCİ A., TÜMER L., Demirtaş C., KARAOĞLU A., OKUR İ., OLGAÇ M. A. B., et al.
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 monocarboxylate transporter 1 MCT1 deficiency as a cause of recurrent ketoacidosis

OKUR İ., İNCİ A., KELEŞ E., KARAOĞLU A., Ceylaner S., BİBEROĞLU G., et al.
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

EZGÜ F. S., Topçu B., Çiftçi B., OKUR İ., TÜMER L.
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 Eylül 2016

Type 1 hypersensitivity reaction and desensitization with Elosulphase alpha

İNCİ A., Kan A., Topuz B., OKUR İ., EZGÜ F. S., TÜMER L.
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 Eylül 2016

BonemineradensityandvitaminDstatusininbornerrorsofmetabolism

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

OKUR İ., İNCİ A., KELEŞ E., KARAOĞLU A., CEYLANER S., BİBEROĞLU G., et al.
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

Pediatrik kanser hastalarında D vitamini düzeylerinin değerlendirilmesi

KARADENİZ C., Bilgin N., PAŞAOĞLU Ö. T., PINARLI F. G., OKUR A., PAŞAOĞLU H., et al.
XIX. Ulusal Pediatrik Kanser Kongresi, İzmir, Türkiye, 4 - 08 Mayıs 2016 Sürdürülebilir Kalkınma

Citrullinemia with an Atypical Presentation Paroxsymal Hypoventilation Attacks

HIRFANOĞLU T., OZTURK Z., TÜMER L., SERDAROĞLU A., ARHAN E., AYDIN K.
14th International Child Neurology Congress 1–5 May 2016 Amsterdam, the Netherlands., 1 - 05 Mayıs 2016, ss.223-224

Fabry Hastalarında Subklinik Sol Ventrikül Disfonksiyonunun Speckle Tracking Ekokardiyografi ile Değerlendirilmesi

GÖKALP G., OKUR İ., ÜNLÜ S., İNCİ A., EZGÜ F. S., ŞAHİNARSLAN A., et al.
V. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Türkiye, 14 - 17 Nisan 2016

Plasma acylcarnitine levels Are there New İnflammatory markers in lysosomal storage disease

BİBEROĞLU G., DERİN B., İNCİ A., udgu b., kurnaz p., OKUR İ., et al.
MEMG, 29 Ekim - 01 Kasım 2015

Is there any effect of acylcarnitines on proinflammatory process in obese children

BİBEROĞLU G., DERİN B., İNCİ A., DÖĞER E., OKUR İ., EZGÜ F. S., et al.
SSIEM, 1 - 04 Eylül 2015

Dihydrolipoamide dehydrogenase deficiency diagnosed byusing new generation sequencing technology

İNCİ A., TÜMER L., OKUR İ., OLGAÇ M. A. B., SARI S., çiftçi b., et al.
SSIEM Annual Symposium, 1 - 04 Eylül 2015

Lysinuric protein intolerance An overlooked diagnosis

TÜMER L., OLGAÇ M. A. B., ÖZGÜL R. K., YENİCESU İ., EZGÜ F. S., BİBEROĞLU G., et al.
SSIEM Annual Symposium, 1 - 04 Eylül 2015

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

İNCİ A., OKUR İ., ESENDAĞLI G., OKUR A., EZGÜ F. S., TÜMER L.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, Fransa, 1 - 04 Eylül 2015

A novel mutation for L 2 hydroxyglutaric aciduria in a 7 year old patient

OLGAÇ M. A. B., TÜMER L., EZGÜ F. S., BİBEROĞLU G., alev h.
SSIEM, 1 - 04 Eylül 2015

Mucopolysaccharidosis Type VII at an Early Age A good candidate for investigational enzyme replacement therapy

Abdulbaki K., EZGÜ F. S., BİBEROĞLU G., OLGAÇ M. A. B., İNCİ A., TÜMER L.
SSIEM, 1 - 04 Eylül 2015

A completely new approach to the diagnosis of inbornerrors development of a 450 gene all metabolic disorders next generation sequencing panel

EZGÜ F. S., çiftçi b., topçu b., OKUR İ., İNCİ A., OLGAÇ M. A. B., et al.
SSIEM Annual Symposium, 1 - 04 Eylül 2015

Cobalamin C disease with hypopigmented cutaneousfindings A unique case

TÜMER L., ARHAN E., OKUR İ., Aydın K., Hirfanoğlu T., Karaoğlu A., et al.
annual symposium of the society for the study of inborn errors of metabolism, Lyon, Fransa, 1 - 04 Eylül 2015, cilt.38, ss.319

Sol çenede Lenfatik tutlum ile giden Niemann Pick tip C olgusu

İNCİ A., OKUR İ., ESENDAĞLI G., OKUR A., OLGAÇ M. A. B., EZGÜ F. S., et al.
XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Türkiye, 14 - 18 Nisan 2015

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

TÜMER L., Olgac A., BİBEROĞLU G., SARI S., DALGIÇ B., Hasanoglu A.
11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114 identifier

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

ÖZTÜRK Z., ARHAN E., AYDIN K., OKUR İ., TÜMER L., SERDAROĞLU A., et al.
31st International Epilepsy Congress,ISTANBUL, 5 - 09 Eylül 2015

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

Ezgu F. S., Koca S., OKUR İ., BİBEROĞLU G., TÜMER L., Bakkaloglu S. A., et al.
11th Annual WORLD Symposium of the Lysosomal-Disease-Network, Florida, Amerika Birleşik Devletleri, 9 - 13 Şubat 2015, cilt.114 identifier

PREVALENCE OF FABRY DISEASE AMONG HEMODIALYSIS PATIENTS IN TURKEY

Okur İ., BİBEROĞLU G., Ezgu F. S., TÜMER L., Hasanoglu A., Bicik Z., et al.
50th European-Renal-Association - European-Dialysis-and-Transplant-Association Congress, İstanbul, Türkiye, 18 - 21 Mayıs 2013, cilt.28, ss.321 identifier

Apheresis inducible cytokine pattern change in children with homozygous familial hypercholesterolemia

KUCUKCONGAR A., YENİCESU İ., TÜMER L., KASAPKARA S., EZGÜ F. S., PAŞAOĞLU Ö. T., et al.
14. International Congress of the world Apheresis society /İstanbul, 13 - 15 Eylül 2012

Three siblings with ext1 CDG

EZGÜ F. S., KASAPKARA Ç., OKUR İ., KÜÇÜKÇONGAR A., TÜMER L., OKUR A., et al.
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, İsviçre, 30 Ağustos - 02 Eylül 2011

The Co-existence of Satoyoshi Syndrome and Myoadenylate Deaminase Deficiency

EZGÜ F. S., TÜMER L., SERDAROĞLU A., HASANOĞLU A., CANSU A., HIRFANOĞLU T., et al.
SSIEM 42st Annual Symposium, Paris, France, 6-9 September, 2005, Paris, Fransa, 6 - 09 Eylül 2005, cilt.28, ss.253 identifier identifier

Kitap & Kitap Bölümleri

Karbonhidrat Metabolizması Bozuklukları

İNCİ A., TÜMER L.
Pediatri , Editör:Zülfikar Akelma,Yardımcı Editörler: Meltem Akçaboy, Ali Fettah, Can Demir Karacan, Fatma Nur Öz, Şenay Savaş Erdeve, Saliha Şenel, Editör, Ankara Nobel Tıp Kitabevleri, Ankara, ss.1130-1136, 2021

Glikojen Depo Hastalıkları ve Bağırsak Mikrobiyotası

Emecan Şanlı M., TÜMER L.
Kalıtsal Metabolik Hastalıklarda Beslenme, Doç. Dr. Fatma Tuba Eminoğlu, Prof. Dr. Yusuf Kenan Haspolat, Prof. Dr. Çoşkun Çeltik, Prof. Dr. Kürşat Bora Çarman,Doç. Dr. Ulaş Emre Akbulut, Uzm Dr. Taşkın Taş, Editör, Orient Yayınevi, ss.833-841, 2021

Smith Lemni Opitz Sendromu ve Beslenme Tedavisi

Emecan Şanlı M., TÜMER L.
Kalıtsal Metabolik Hastalıklarda Beslenme, Doç. Dr. Fatma Tuba Eminoğlu, Prof. Dr. Yusuf Kenan Haspolat, Prof. Dr. Çoşkun Çeltik, Prof. Dr. Kürşat Bora Çarman,Doç. Dr. Ulaş Emre Akbulut, Uzm Dr. Taşkın Taş, Editör, Orient Yayınevi, ss.779-795, 2021

Mitokondriyal Hastalıklarda Ketojenik Diyet

İNCİ A., TÜMER L.
Ketojenik Diyet Tedavisi Bülten, Prof. Dr. Turgay Coşkun, Prof. Dr. Meral Topçu, Editör, Türkiye Klinikleri, Ortadoğu Reklam Tanıtım Yayıncılık Turizm Eğitim İnşaat Sanayi ve Ticaret A.Ş, Ankara, ss.5-13, 2020

Normal Çocuklukta Beslenme ve Beslenme Bozuklukları

TÜMER L., İNCİ A., OKUR İ., Kasapkara Ç. S., OLGAÇ M. A. B.
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

Mitokondriyal Hastalıklar

TÜMER L., İNCİ A.
Yurdakök Pediatri, Murat Yurdakök, Editör, Güneş Tıp Kitapevi, Ankara, ss.1779-1790, 2017

Yoğurt ve Laktoz İntoleransı

TÜMER L., OLGAÇ M. A. B.
YoğurtLezzetin ve Sağlığın Öyküsü, Sevinç Yücecan, Editör, Matsis Matbaa, İstanbul, ss.107-1114, 2015

Metrikler

Yayın

214

Atıf (WoS)

423

H-İndeks (WoS)

12

Atıf (Scopus)

450

H-İndeks (Scopus)

13

Proje

68

Tez Danışmanlığı

12

Açık Erişim

17
BM Sürdürülebilir Kalkınma Amaçları