Publications by authors named "Ali Dursun"

67Publications

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.

Eur J Med Genet 2020 Nov 7;63(11):104032. Epub 2020 Aug 7.

Hacettepe University Faculty of Medicine, Division of Pediatric Metabolism, Ankara, Turkey. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2020.104032DOI Listing
November 2020

Oral health status of children with phenylketonuria.

J Pediatr Endocrinol Metab 2020 Mar;33(3):361-365

Department of Pediatric Dentistry, Faculty of Dentistry, Hacettepe University, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem-2019-0439DOI Listing
March 2020

Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department.

Eur J Pediatr 2020 Jul 11;179(7):1107-1114. Epub 2020 Feb 11.

Division of Pediatric Metabolism, Department of Pediatrics, Hacettepe University Ihsan Dogramaci Children's Hospital, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-020-03602-xDOI Listing
July 2020

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.

Am J Med Genet A 2020 04 25;182(4):705-712. Epub 2020 Jan 25.

Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism, Hacettepe University, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61488DOI Listing
April 2020

Presentation of 14 alkaptonuria patients from Turkey.

J Pediatr Endocrinol Metab 2020 Feb;33(2):289-294

Department of Pediatric Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem-2019-0163DOI Listing
February 2020

Effects of eccentric exercise on different slopes.

J Musculoskelet Neuronal Interact 2019 12;19(4):412-421

Ankara University Faculty of Medicine, Department of Physiology, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944809PMC
December 2019

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

Am J Med Genet B Neuropsychiatr Genet 2020 01 11;183(1):3-4. Epub 2019 Sep 11.

Hacettepe University Institute of Child Health, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32762DOI Listing
January 2020

The effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis.

J Pediatr Endocrinol Metab 2019 Oct;32(10):1049-1053

Division of Pediatric Metabolism, Hacettepe University, Medical Faculty, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1515/jpem-2019-0293DOI Listing
October 2019

Effects of exercise training on anxiety in diabetic rats.

Behav Brain Res 2019 12 26;376:112084. Epub 2019 Jul 26.

Ankara University, Faculty of Medicine, Department of Physiology, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbr.2019.112084DOI Listing
December 2019

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.

Pediatr Neurol 2019 10 28;99:69-75. Epub 2019 Jun 28.

Division of Pediatric Metabolism, Hacettepe University Children's Hospital, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2019.06.015DOI Listing
October 2019

Imaging liver nodules in tyrosinemia type-1: A retrospective review of 16 cases in a tertiary pediatric hospital.

Eur J Radiol 2019 Jul 23;116:41-46. Epub 2019 Apr 23.

Department of Radiology, Hacettepe University School of Medicine Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejrad.2019.04.016DOI Listing
July 2019

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

J Inherit Metab Dis 2019 03 30;42(2):381-388. Epub 2019 Jan 30.

Department of Pediatrics, Division of Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12016DOI Listing
March 2019

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

Cognitive and behavioral impairment in mild hyperphenylalaninemia.

Turk J Pediatr 2018 ;60(6):617-624

Departments of Pediatric Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2018.06.001DOI Listing
January 2018

Effect of picroside II on hind limb ischemia reperfusion injury in rats.

Drug Des Devel Ther 2017 26;11:1917-1925. Epub 2017 Jun 26.

Department of Physiology, Dumlupinar University Medical Faculty, Kütahya, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/DDDT.S132401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500556PMC
April 2018

Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder.

Turk J Pediatr 2016 ;58(1):94-96

Pediatric Metabolic Diseases Unit, Department of Pediatrics, Hacettepe University Faculy of Medicine, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.24953/turkjped.2016.01.014DOI Listing
June 2017

Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride.

Gynecol Endocrinol 2017 Jan 29;33(1):19-20. Epub 2016 Nov 29.

a Division of Pediatric Metabolism , Department of Pediatrics, Faculty of Medicine, Hacettepe University , Ankara , Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/09513590.2016.1247796DOI Listing
January 2017

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

Clin Dysmorphol 2017 Jan;26(1):1-12

Departments of aPediatric Metabolism bPediatric Neurology cPediatric Pathology Unit, Hacettepe University Faculty of Medicine dDepartment of Pediatric Metabolism, Institute of Child Health, Hacettepe University, Ankara eTurkish National Research Institute of Electronics and Cryptology (UEKAE) fTUBITAK Marmara Research Center, Genetic Engineering and Biotechnology Institute (GEBI), Gebze/Kocaeli, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000149DOI Listing
January 2017

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.

Turk J Med Sci 2016 Feb 17;46(2):404-8. Epub 2016 Feb 17.

Department of Biology, Faculty of Science and Arts, Aksaray University, Aksaray, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3906/sag-1411-160DOI Listing
February 2016

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia.

Neurol Genet 2016 Jun 12;2(3):e78. Epub 2016 May 12.

Department of Neuroscience (I.M., K.A.M.), Scripps Research Institute, Jupiter, FL; Shenzhen Key Laboratory of Neurogenomics (M.F., J.Z.), BGI-Shenzhen (M.F., C.G., J.Z., H.J.), Shenzhen, China; Department of Pediatric Metabolism (R.K.Ö., D.Y.Y., A.D.), Institute of Child Health; Department of Pediatric Neurology (D. Yalnızoğlu), Faculty of Medicine, Hacettepe University, Ankara, Turkey; Department of Pediatric Neurology (D. Yüksel), Dr. Sami Ulus Maternity and Children's Research and Training Hospital, Ministry of Health, Ankara, Turkey; Sanford Children's Health Research Center (A.Y., A.M., S.C.B., P.L.C.), Sioux Falls, SD; Department of Child Health (S.P.-L., M.C.K.), University of Arizona College of Medicine, Phoenix, AZ; Movement Disorders Center and Neurogenetics Research Program (S.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; and Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866576PMC
June 2016

Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation.

Turk J Pediatr 2015 Jul-Aug;57(4):388-393

Division of Pediatric Metabolism, Department of Pediatrics Faculty of Medicine, Hacettepe University, Ankara, Turkey.

View Article

Download full-text PDF

Source
February 2017

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

J Steroid Biochem Mol Biol 2017 01 5;165(Pt A):57-63. Epub 2016 Mar 5.

Hacettepe University, Pediatric Metabolism Unit, Institute of Child Health, Ankara, Turkey.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09600760163005
Publisher Site
http://dx.doi.org/10.1016/j.jsbmb.2016.03.006DOI Listing
January 2017

Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four.

Turk J Pediatr 2015 May-Jun;57(3):213-8

Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

View Article

Download full-text PDF

Source
August 2016

Dry Eye Related to Commonly Used New Antidepressants.

J Clin Psychopharmacol 2015 Aug;35(4):411-3

From the *Psychiatry Department, Bezmialem Vakıf University Medical Faculty; †Neurology Department, Istanbul Medeniyet University Medical Faculty; and ‡Ophtalmology Department, Bezmialem Vakıf University Medical Faculty, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/JCP.0000000000000356DOI Listing
August 2015

Transcobalamin II Deficiency in Four Cases with Novel Mutations.

Turk J Haematol 2015 Dec 27;32(4):317-22. Epub 2015 Apr 27.

Hacettepe University Faculty of Medicine, Division of Pediatric Hematology, Ankara, Turkey Phone: +90 312 305 11 70 E-mail:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4274/tjh.2014.0154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805327PMC
December 2015

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.

Eur J Pediatr 2015 Aug 11;174(8):1077-84. Epub 2015 Mar 11.

Faculty of Science and Arts, Department of Biology, Aksaray University, Aksaray, Turkey,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-015-2509-5DOI Listing
August 2015

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.

Eur J Med Genet 2014 Oct 8;57(10):596-601. Epub 2014 Sep 8.

Hacettepe University, Faculty of Medicine, Department of Pediatrics, Metabolism Unit, Ankara, Turkey. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.08.006DOI Listing
October 2014

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation.

Turk J Pediatr 2013 Nov-Dec;55(6):633-6

Division of Hacettepe University Faculty of Medicine, Ankara, Turkey, and 3University Children's Hospital, Basel, Switzerland.

View Article

Download full-text PDF

Source
August 2014

Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines.

J Clin Immunol 2014 Apr 19;34(3):265-6. Epub 2014 Feb 19.

Institute of Child Health, Metabolism Unit, Hacettepe University, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-014-9999-1DOI Listing
April 2014

Pregnancy and lactation outcomes in a Turkish patient with lysinuric protein intolerance.

JIMD Rep 2014 20;13:33-6. Epub 2013 Oct 20.

Division of Metabolism, Department of Pediatrics, Hacettepe University, İhsan Doğramacı Children's Hospital, Ankara, Turkey,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2013_259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110330PMC
July 2014

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.

J Hum Genet 2013 Oct 8;58(10):675-8. Epub 2013 Aug 8.

1] Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey [2] Institute of Child Health, Hacettepe University, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2013.76DOI Listing
October 2013

Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs.

Turk J Pediatr 2012 Jul-Aug;54(4):409-12

Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

View Article

Download full-text PDF

Source
August 2013

Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.

Gene 2013 Jun 28;521(2):293-5. Epub 2013 Mar 28.

Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2013.03.033DOI Listing
June 2013

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

JIMD Rep 2013 31;9:1-5. Epub 2012 Aug 31.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2012_173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565670PMC
February 2013

Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia Attacks.

J Child Neurol 2013 Nov 18;28(11):1509-1512. Epub 2012 Sep 18.

1Department of Pediatrics, Hacettepe University, Division of Metabolism and Nutrition, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073812458711DOI Listing
November 2013

A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy.

J Child Neurol 2013 Nov 10;28(11):1505-1508. Epub 2012 Sep 10.

1Department of Pediatrics, Division of Metabolism and Nutrition, Fellow of Metabolism, Hacettepe University, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073812458710DOI Listing
November 2013

Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.

Mol Genet Metab 2012 Aug 1;106(4):419-23. Epub 2012 Jun 1.

Metabolism Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2012.05.014DOI Listing
August 2012

Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.

Pediatr Neurol 2012 Mar;46(3):172-7

Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Sıhhiye, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2011.12.006DOI Listing
March 2012

The effects of acute and intermittent hypoxia on the expressions of HIF-1α and VEGF in the left and right ventricles of the rabbit heart.

Anadolu Kardiyol Derg 2011 Aug 7;11(5):379-85. Epub 2011 Jun 7.

Department of Physiology, Faculty of Medicine, Ankara University, Ankara-Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5152/akd.2011.104DOI Listing
August 2011

A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.

Turk J Pediatr 2011 Jan-Feb;53(1):79-82

Unit of Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.

View Article

Download full-text PDF

Source
June 2011

Mutations in the G6PC3 gene cause Dursun syndrome.

Am J Med Genet A 2010 Oct;152A(10):2609-11

Genetic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33615DOI Listing
October 2010

Hypoxia inducible factor 1 (HIF-1) and cardioprotection.

Acta Pharmacol Sin 2010 Sep 16;31(9):1085-94. Epub 2010 Aug 16.

John P Hussman Institute for Human Genomics, University of Miami, FL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/aps.2010.132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4002308PMC
September 2010

3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.

Turk J Pediatr 2009 Nov-Dec;51(6):587-92

Unit of Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

View Article

Download full-text PDF

Source
March 2010

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.

J Inherit Metab Dis 2009 Dec 23;32 Suppl 1:S345-8. Epub 2009 Dec 23.

Department of Pediatrics, Metabolism and Nutrition Unit, Faculty of Medicine, Hacettepe University, 06100, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10545-009-9010-0
Publisher Site
http://dx.doi.org/10.1007/s10545-009-9010-0DOI Listing
December 2009

Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis.

Arthritis Rheum 2009 Nov;60(11):3410-2

Bilkent University, Faculty of Science and Institute of Materials Science and Nanotechnology, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/art.24956DOI Listing
November 2009

Molecular genetics of maple syrup urine disease in the Turkish population.

Turk J Pediatr 2009 Mar-Apr;51(2):97-102

Department of General Pediatrics, Heinrich-Heine University, Düsseldorf, Germany.

View Article

Download full-text PDF

Source
June 2009

A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings.

Eur J Pediatr 2007 Oct 6;166(10):1077-80. Epub 2007 Jan 6.

Faculty of Medicine, Department of Pediatrics, Neonatology Unit, University of Kirikkale, Kirikkale, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00431-006-0350-6DOI Listing
October 2007

Haematological findings in children with inborn errors of metabolism.

J Inherit Metab Dis 2006 Oct 12;29(5):607-11. Epub 2006 Aug 12.

Pediatric Hematology Unit, Hacettepe University School of Medicine, Ankara, Turkey,

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10545-006-0379-8
Publisher Site
http://dx.doi.org/10.1007/s10545-006-0379-8DOI Listing
October 2006

The molecular basis of familial hypercholesterolaemia in Turkish patients.

Atherosclerosis 2005 May;180(1):63-71

Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Rayne Building, Royal Free and University College London Medical School, London WC1E 6JJ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosis.2004.12.042DOI Listing
May 2005

A boy with spastic paraparesis and dyspnea.

J Child Neurol 2004 May;19(5):397-8

Department of Pediatrics, Section of Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/088307380401900517DOI Listing
May 2004

The prevalence, molecular analysis and HLA typing of late-onset 21-hydroxylase deficiency in Turkish woman with hirsutism and polycystic ovary.

Endocr J 2004 Feb;51(1):31-6

Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1507/endocrj.51.31DOI Listing
February 2004

Transient nonketotic hyperglycinemia: two case reports and literature review.

Pediatr Neurol 2003 Feb;28(2):151-5

Social Security Children's Hospital, Neonatology Unit, Ankara, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0887-8994(02)00501-5DOI Listing
February 2003