Prof. Dr. ALİ DURSUN

Yayın Ağı

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

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)

Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10

Gurbuz B. B., GÜLBAKAN B., ÖZGÜL R. K., YALNIZOĞLU D., Yilmaz D. Y., GÖÇMEN R., et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.194, sa.9, 2024 (SCI-Expanded) Sürdürülebilir Kalkınma

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)

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)

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)

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Almousa H., Lewis S. A., Bakhtiari S., Nordlie S. H., Pagnozzi A., Magee H., et al.

Brain : a journal of neurology , cilt.147, sa.1, ss.311-324, 2024 (SCI-Expanded)

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)

COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity

KAHRAMAN A. B., YILDIZ Y., ÇIKI K., Erdal I., AKAR H. T., DURSUN A., et al.

Molecular Genetics and Metabolism , cilt.139, sa.2, 2023 (SCI-Expanded)

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)

An investigation of different intracellular parameters for Inborn Errors of Metabolism: Cellular stress, antioxidant response and autophagy

Vardar Acar N., DURSUN A., Aygün D., Gürses Cila H. E., LAY İ., GÜLBAKAN B., et al.

Free Radical Biology and Medicine , cilt.179, ss.190-199, 2022 (SCI-Expanded)

Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity

DURSUN A., YALNIZOĞLU D., Yilmaz D. Y., Oguz K. K., GÜLBAKAN B., KOŞUKCU C., et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.64, sa.11, 2021 (SCI-Expanded)

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)

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)

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) Sürdürülebilir Kalkınma

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)

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)

Presentation of 14 alkaptonuria patients from Turkey

AKBABA A. İ., ÖZGÜL R. K., DURSUN A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.33, sa.2, ss.289-294, 2020 (SCI-Expanded)

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)

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)

Clinical highlights of a very rare phospolipid remodeling disease due to MBOAT7 gene defect

DURSUN A., YALNIZOĞLU D., ÖZGÜL R. K., Oguz K. K., Yucel-Yilmaz D.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS , 2019 (SCI-Expanded)

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)

Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect

YALNIZOĞLU D., ÖZGÜL R. K., Oguz K. K., Ozer B., Yucel-Yilmaz D., Gurbuz B., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.42, sa.2, ss.381-388, 2019 (SCI-Expanded)

The genotypic and phenotypic spectrum of MTO1 deficiency

O'Byrne J. J., Tarailo-Graovac M., Ghani A., Champion M., Deshpande C., DURSUN A., et al.

MOLECULAR GENETICS AND METABOLISM , cilt.123, sa.1, ss.28-42, 2018 (SCI-Expanded) Sürdürülebilir Kalkınma

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)

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) Sürdürülebilir Kalkınma

Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-beta hydroxylase deficiency

KANDEMİR N., Yilmaz D. Y., GÖNÇ E. N., Ozon A., ALİKAŞİFOĞLU A., DURSUN A., et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY , cilt.165, ss.57-63, 2017 (SCI-Expanded)

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) Sürdürülebilir Kalkınma

A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation

DURSUN A., YALNIZOĞLU D., Gerdan O. F., Yucel-Yilmaz D., Sagiroglu M. S., YUKSEL B., et al.

CLINICAL DYSMORPHOLOGY , cilt.26, sa.1, ss.1-12, 2017 (SCI-Expanded)

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)

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)

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)

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)

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)

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)

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

AKIZU N., CANTAGREL V., ZAKI M. S., Al-Gazali L., WANG X., ROSTI R. O., et al.

NATURE GENETICS , cilt.47, sa.5, ss.528-536, 2015 (SCI-Expanded)

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)

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)

Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines

ÖZGÜL R. K., YUCEL-YILMAZ D., DURSUN A.

JOURNAL OF CLINICAL IMMUNOLOGY , cilt.34, sa.3, ss.265-266, 2014 (SCI-Expanded)

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)

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)

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) Sürdürülebilir Kalkınma

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)

**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)

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)

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)

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

Ostergaard E., Duno M., Moller L. B., Kalkanoglu-Sivri H. S., DURSUN A., ALİEFENDİOĞLU D., et al.

JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/6 , cilt.9, ss.1-5, 2013 (SCI-Expanded)

MOLYBDENUM COFACTOR (MOCO) DEFICIENCY TYPE B; CLINICAL, BIOCHEMICAL AND NEUROIMAGING FEATURES OF FIVE PATIENTS WTH TWO NOVEL MUTATIONS

ÖZTÜRK HİŞMİ B., Unal O., Sass J. O., Beermann F., Ichida K., DURSUN A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded)

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)

Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant

Guven A., Cebeci N., DURSUN A., Aktekin E. H., Baumgartner M. R., Fowler B.

PEDIATRIC DIABETES , cilt.13, sa.6, 2012 (SCI-Expanded) Sürdürülebilir Kalkınma

A PATIENT WITH PYRUVATE CARBOXYLASE DEFICIENCY AND NEMALINE RODS ON MUSCLE BIOPSY

Unal O., ÖZTÜRK HİŞMİ B., DURSUN A., Tokatli A., Coskun T., Wibrand F., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded)

FEVER OF UNKNOWN ORIGIN IN A YOUNG ADULT WITH END-STAGE RENAL DISEASE, PREMATURE CORONARY ARTERY DISEASE AND POLYNEUROPATHY

ÖZTÜRK HİŞMİ B., Yasar Y., Unal O., Kilic L., Turkmen E., Erdem Y., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded)

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)

ENZYME REPLACEMENT THERAPY (ERT)RESULTS OF PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE II (HUNTER SYNDROME)

Unal O., Dogru-Ersoz D., Alehan D., Saglam M., Hismi B., DURSUN A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded)

SEVERE AZOTEMIA AND HYPERNATREMIC DEHYDRATION IN AN INFANT WITH PHENYLKETONURIA

Unal O., DÜZOVA A., ÖZTÜRK HİŞMİ B., DURSUN A., Tokatli A., Coskun T., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded)

OCTN2 GENE MUTATIONS IN TURKISH PATIENTS WITH PRIMARY CARNITINE DEFICIENCY

Yucel-Yilmaz D., Ersoy M., Candan S., Balci M., KILIÇ M., Gokcay G., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded)

DIETARY MANAGEMENT AND GROWTH OF TETRAHYDROBIOPTERIN RESPONSIVE TURKISH PKU PATIENTS

Gokmen-Ozel H., Unal O., Kalkanoglu-Sivri H. S., Koksal G., DURSUN A., Tokatli A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded)

ACUTE INTERMITTENT PORPHYRIA: STILL UNCALLED BY PHYSICIANS

ÖZTÜRK HİŞMİ B., Tanriover M. D., Unal O., Sener E., TEMUÇİN Ç. M., Sivri H. S., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.35, 2012 (SCI-Expanded)

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)

Identification of a Novel Twinkle Mutation in a Family With Infantile Onset Spinocerebellar Ataxia by Whole Exome Sequencing

DUNDAR H., ÖZGÜL R. K., YALNIZOĞLU D., Erdem S., Oguz K. K., Tuncel D., et al.

PEDIATRIC NEUROLOGY , cilt.46, sa.3, ss.172-177, 2012 (SCI-Expanded)

A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene

Kilic M., Taskesen M., Coskun T., Gurakan F., Tokatli A., Sivri H. S., et al.

JIMD REPORTS - CASE AND RESEARCH REPORTS, 2011/2 , cilt.2, ss.25-28, 2012 (SCI-Expanded)

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)

Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease

DURSUN A., ÖZGÜL R. K., Sivri S., TOKATLI A., Guzel A., Mesci L., et al.

JIMD REPORTS: CASE AND RESEARCH REPORTS, 2011/1 , cilt.1, ss.17-21, 2011 (SCI-Expanded)

HEMOPHAGOCYTOSIS IN THREE PATIENTS WITH ORGANIC ACIDEMIA INVOLVING PROPIONATE METABOLISM

Gokce M., Unal O., ÖZTÜRK HİŞMİ B., Gumruk F., Coskun T., DURSUN A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded)

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)

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)

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)

THE PRESENCE OF NEGATIVE CORRELATION BETWEEN BLOOD HEMOGLOBIN AND PROPIONYLCARNITINE LEVELS IN METHYLMALONIC AND PROPIONIC ACIDEMIAS

Aydin H., Sivri S., DURSUN A., Tokatli A., Kutuk G., Onol S., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded)

PHENOTYPICAL PROPERTIES AND RESPONSE TO CHOLESTEROL THERAPY OF SMITH-LEMLI-OPITZ SYNDROME CASES

Kilic M., Tokatli A., ALANAY Y., Kilic E., Kalkanoglu-Sivri H. S., DURSUN A., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded)

OUTCOME OF ENZYME REPLACEMENT THERAPY IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE VI

Kilic M., Kalkanoglu-Sivri H. S., DURSUN A., Tokatli A., Coskun T.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded)

THE CARDIAC MANIFESTATION AND RESPONSE TO L-CARNITINE TREATMENT IN 14 CASES WITH PRIMARY SYSTEMIC CARNITINE DEFICIENCY: CORRELATION WITH GENOTYPE

Balci M. C., Yucel D., Ergul Y., ÖZGÜL R. K., Baykal T., Aktuglu-Zeybek C., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded)

CHALLENGES IN THE TREATMENT OF A PATIENT AFFECTED BY BOTH ARGININOSUCCINIC ACIDURIA AND METHYLMALONIC ACIDURIA

Unal O., ÖZTÜRK HİŞMİ B., Coskun T., Tokatli A., DURSUN A., Sivri K. H. S.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded)

A ZINC SULPHATE-RESISTANT ACRODERMATITIS ENTEROPATHICA PATIENT WITH A NOVEL MUTATION IN SLC39A4 GENE

Kilic M., Taskesen M., Coskun T., Gurakan F., Tokatli A., Kalkanoglu-Sivri H. S., et al.

JOURNAL OF INHERITED METABOLIC DISEASE , cilt.34, 2011 (SCI-Expanded)

Mutations in the G6PC3 Gene Cause Dursun Syndrome

Banka S., Newman W. G., ÖZGÜL R. K., DURSUN A.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.10, ss.2609-2611, 2010 (SCI-Expanded)