PEDİATRİ ANABİLİM DALI

Dr. Öğr. Üyesi Deniz Kör

CURRICULUM VITAE

1-PERSONAL PROFILE

Name:Deniz Sex:Female

Surname:KorAdress:Çukurova University,Medical

Faculty, Department of Pediatric Metabolism

and Nutrition, Adana, 01130, Turkey

Date of Birth: 23.01.1981 E-mail:dozonur@yahoo.com

2-EDUCATION and WORK EXPERIENCE

Medical School:Çukurova University, Adana, TURKEY, 1998-2004

Fellowship:Çukurova University, Adana, TURKEY, 2011-2015

Associate Professor: Çukurova University, Adana, TURKEY, 2018-

3- PRESENT POSITION:

AssociateProfessor of Pediatrics, Depatment of Pediatric Metabolism and Nutrition

4-PRIZES and AWARDS(2014-2019)

1) 17 years of Gaucher Disease experience from Çukurova University. Bulut FD, Kılavuz S, Şeker Yılmaz B, Kor D, Ballı T, Onan B, Özcan N, Gürkan E, Deniz A, Önenli Mungan N. Gaucher Disease Symposium, İstanbul, 21-22 October 2018 (1. of oral presentations).

2) Erişkin lizozomal depo tanılı hastaların çocuk metabolizma polikliniği’nde izlemlerine bakış açıları: Odak grup çalışması. Bulut FD, Şeydaoğlu G, Kılavuz S, Kor D, Şeker Yılmaz B, Boz A, Önenli Mungan N. VI. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi. Antalya, 2018 (1. of oral presentations).

3)Is there a difference between the onset of visceral symptoms and genotype of Gaucher Disease type 1 and type 3? Çukurova University experience. Kılavuz S, Kor D, Şeker Yılmaz B, Bulut FD, Hergüner Ö, Yöntem A, Demir F, Önenli Mungan N. Gaucher Disease Symposium, İstanbul, 21-22 October 2018 (1. of poster presentations).

4)Farber Hastalığı: Üç olgu sunumu ve bir yeni mutasyon. Şeker Yılmaz B, Kılavuz S, Kor D, Bulut FD, Kışla Ekinci M, Bişgin A, Varan C, Haytoğlu Z, Ballı T, Guzel R, Önenli Mungan N. VI. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi. Antalya, 2018 (2. of poster presentations).

5)Pediatri pratiğinde rabdomiyoliz ve kalıtsal metabolik hastalıklar: Çukurova deneyimi. Sebile Kılavuz, Deniz Kor, Derya Bulut, Berna Şeker Yılmaz, Gülen Gül Mert, Faruk Ekici, Meryem Karaca, Melike Akbal, Tamer İnal, Neslihan Önenli Mungan. 4. Genç Pediatristler Kongresi,İstanbul, 2018 (2. of poster presentations).

6)Psikomotor retardasyon ve renal tübüler disfonksiyonun çok nadir bir nedeni: Konjenital glikolizasyon defekti tip-IIk. Bulut FD, Kılavuz S, Özgür Horoz Ö, Atmış B, Özcan N, Bayazıt A, Şeker Yılmaz B, Kör D, Besen Ş, Önenli Mungan N. 14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi. 2017 (2. of poster presentations).

7)İlk veriler ışığında biotinidaz eksikliğinde yenidoğan tarama programı eşik değeri ne

olmalı? Çukurova deneyimi. Sebile Kılavuz, Deniz Kör, Berna Şeker Yılmaz, Fatma Derya

Bulut, Nuran Şahin, Murat Öktem, Tanju Altınsu, Zeliha Haytoğlu, Melike Akbal, Neslihan

Önenli Mungan. 3. Genç Pediatristler Kongresi, 2017 (2. of oral presentations).

8)Farklı klinik prezentasyonlarla glutarik asidüri tip-II: Beş aile bir olgu.Önenli Mungan N, Bulut FD, Kör D, Şeker Yılmaz B, Oflazer P, İncecik F, Kılavuz S, Özgür Horoz Ö, Özbek MN, Yıldızdaş D. 14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi. Bodrum, 2017 (3. of oral presentations).

9)Mukopolisakkaridozlu hastalardaki osteoporozda bifosfonat tedavisinin etkinliğinin değerlendirilmesi. Önenli Mungan N,Kör D, Bulut FD, Şeker Yılmaz B, Ballı T, Soyupak S. V. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi. 2016 (1. of oral presentations).

10)Glikojen depo hastalığında hepatik tutulum: 43 olgunun değerlendirilmesi.Kör D, Şeker Yılmaz B, Bişgin A, Ceylaner G, Gönkek S, Tümgör G, Özakçaoğlu T, Önenli Mungan N. XIII. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi. 2015(2. of oral presentations).

11) Fenilketonüride bölünmüş dozda sapropterin uygulamasının etkinliği. Kör D, Önenli Mungan N, Şeker Yılmaz B, Gönkek S, Özakçaoğlu T, Bulut D. XIII. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi. 2015(3. of poster presentations).

12) 10 Pompe hastasında yüksek doz enzim replasman tedavi sonuçları. Kör D, Yılmaz Şeker B, Ceylaner S, Onay H, İcil S, Önenli Mungan N. IV. Uluslararası Katılımlı Lizozomal Depo Hastalıkları Kongresi, Antalya, 2014 (2. of oral presentations).

5-JOURNAL PUBLICATIONS

a)Publications Indexed ByWeb of Science(2014-2019)

1.Four Gaucher disease type II patients with three novel mutations: A single centre experience from Turkey.

Bulut FD, Kör D, Şeker-Yılmaz B, Hergüner Ö, Ceylaner S, Özkınay F, Kılavuz S, Önenli-Mungan N. Metab Brain Dis. 2018 Aug; 33(4): 1223-1227. doi: 10.1007/s11011-018-0236-0. Epub 2018 Apr 14.

2.Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.

Bulut FD, Kör D, Şeker-Yılmaz B, Gül-Mert G, Kılavuz S, Önenli-Mungan N.Metab Brain Dis. 2018 Jun; 33(3): 977-979. doi: 10.1007/s11011-017-0152-8. Epub 2017 Nov 20.

3.Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: A report of 203 patients from the Southeastern part of Turkey.

Şeker Yılmaz B, Mungan NÖ, Kor D, Bulut D, Seydaoğlu G, Öktem M, Ceylaner S. J Pediatr Endocrinol Metab.2018 Mar 28; 31(3): 339-343. doi: 10.1515/jpem-2017-0406.

4.Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey.

Kor Y, Kor D.J Pediatr Endocrinol Metab.2018 Jun 27; 31(6): 619-624. doi:10.1515/jpem-2017-0433.

5.Impaired glucose tolerance in Fanconi-Bickel syndrome: Eight patients with two novel mutations.

Şeker-Yılmaz B, Kör D, Bulut FD, Yüksel B, Karabay-Bayazıt A, Topaloğlu AK, Ceylaner G, Önenli-Mungan N.Turk J Pediatr. 2017; 59(4): 434-441. doi: 0.24953/turkjped. 2017.04.010.

6.p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency.

Şeker-Yılmaz B, Kör D, Tümgör G, Ceylaner S, Önenli-Mungan N.Turk J Pediatr. 2017; 59(3): 311-314. doi: 10.24953/turkjped.2017.03.012..

7.Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.

Kör D, Yılmaz BŞ, Bulut FD, Ceylaner S, Mungan NÖ. J Pediatr Endocrinol Metab. 2017 Jul 26; 30(7): 713-718. doi: 10.1515/jpem-2016-0461.

8. Propionic acidemia: A Turkish case report of a successful pregnancy, labor and lactation.

Mungan NÖ, Kör D, Büyükkurt S, Atmış A, Güleç Ü, Satar M. J Pediatr Endocrinol Metab. 2016 Jul 1; 29(7): 863-6. doi: 10.1515/jpem-2015-0451.

9.Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone.

Önenli Mungan N, Yıldızdaş D, Kör D, Horoz ÖÖ, İncecik F, Öktem M, Sander J. Metab Brain Dis. 2016 Oct; 31(5):1181-3. doi: 10.1007/s11011-016-9833-y. Epub 2016 May 17.

10.A desensitization method to maintain enzyme replacement therapy in Mucopolysaccharidosis type VI.

Kör D, Şeker Yilmaz B, Bulut FD, Önenli Mungan N, Ufuk Altıntaş D. J Investig Allergol Clin Immunol. 2016;26(2): 130-2. doi: 10.18176/jiaci.0030.

11.Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.

Önenli-Mungan N, Kör D, Karabay-Bayazıt A, Cengiz N, Yavuz S, Noyan A, Ceylaner G, Şeker-Yılmaz B, Topaloğlu AK, Yüksel B, Anarat A. Turk J Pediatr. 2016; 58(4): 362-370.

12.Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.

Yılmaz BŞ, Mungan NÖ, Di Leo E, Magnolo L, Artuso L, Bernardis I, Tümgör G, Kor D, Tarugi P. Clin Chim Acta. 2016 Jan 15; 452: 185-90. doi: 10.1016/j.cca.2015.11.017. Epub 2015 Nov 22.

13.Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin.

Horoz ÖÖ, Mungan NÖ, Yıldızdaş D, Hergüner Ö, Ceylaner S, Kor D, Waterham H, Coşkun T. J Pediatr Endocrinol Metab. 2016 Feb; 29(2): 227-31. doi: 10.1515/jpem-2015-0198.

14.A case report of a very rare association of tyrosinemia type I and pancreatitis mimicking neurologic crisis of tyrosinemia type I.

Uçar HK, Tümgör G, Kör D, Kardaş F, Mungan NÖ. Balkan Med J. 2016 May; 33(3): 370-2. doi: 10.5152/balkanmedj.2016.141074. Epub 2016 May 1.

15.Two novel mutations in AGK gene: Two case reports with Sengers syndrome.Kor D, Yılmaz BS, Horoz OO, Ceylaner G, Sızmaz S, Demir F, Mungan NO. J Gene Technol. 2016; 5:1.

16.Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up.

Yılmaz BŞ, Kor D, Mungan NÖ, Erdem S, Ceylaner S. J Pediatr Endocrinol Metab. 2015 Sep; 28(9-10): 1179-81. doi: 10.1515/jpem-2014-0528.

17.An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.

Kör D, Mungan NÖ, Yılmaz BŞ, Öktem M. J Pediatr Endocrinol Metab. 2015 May; 28(5-6): 669-71. doi: 10.1515/jpem-2014-0302.

18.Two novel missense mutations in nonketotic hyperglycinemia.

Yılmaz BŞ, Kor D, Ceylaner S, Mert GG, İncecik F, Kartal E, Mungan NÖ. J Child Neurol. 2015 May; 30(6): 789-92. doi: 10.1177/0883073814535499. Epub 2014 May 16.

19.Blue-colored sweating: four infants with apocrine chromhidrosis.

Yöntem A, Kör D, Hızlı-Karabacak B, Karakaş M, Önenli-Mungan N. Turk J Pediatr. 2015 May-Jun; 57(3): 290-3.

20.X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms.

İncecik F, Hergüner MÖ, Mert G, Önenli-Mungan N, Ceylaner S, Kör D, Altunbaşak Ş. Turk J Pediatr. 2014 Nov-Dec; 56(6): 651-3.

21.Molecular analysis of turkish Maroteaux-Lamy patients and identification of one novel mutation in the Arylsulfatase B (ARSB)Gene.

Zanetti A, Önenli-Mungan N, Elçioğlu N, Ozbek MN, Kör D, Lenzini E, Scarpa M, Tomanin R. JIMD Rep.2014;14:1-9. doi: 10.1007/8904_2013_276. Epub 2013 Nov 16.

b) Publications Indexed By other thanWeb of Science

c)National Publications(2014-2019)

1.Demographic, phenotypic and genotypic features of Alkaptonuria patients: A single centre experience.

Sebile Kılavuz, Fatma Derya Bulut, Deniz Kor, Berna Şeker Yılmaz, Sibel Başaran,Tunay Sarpel, Neslihan Önenli Mungan.The Journal of Pediatric Research. 5.1 (Mar. 2018): p7a+. DOI: http://dx.doi.org/10.4274/jpr.20982.

2.A 6-Month-Old boy with reddish, scaly skin: Netherton Syndrome.

Fatma Derya Bulut, Deniz Kor, Berna Şeker Yılmaz, Mustafa Yılmaz, Serdar Ceylaner, Sebile Kılavuz, Neslihan Önenli Mungan.The Journal of Pediatric Research. 5.1 (Mar. 2018): p54a+. DOI: http://dx.doi.org/10.4274/jpr.63825.

3.Üre döngüsü enzim eksikliği tanısı ile izlenen 20 hastanın klinik ve moleküler özelliklerinin değerlendirilmesi: Sekiz yeni mutasyon ile Çukurova Üniversitesi deneyimi.

Deniz Kor, Berna Şeker Yılmaz, Fatma Derya Bulut, Sebile Kılavuz, Halise Neslihan Önenli Mungan. Türkiye Çocuk Hastalıkları Dergisi Elektronik yayın tarihi : 20.12.2018 DOI: 10.12956/tjpd.2018.397.

4)Two novel mutations in the AGK gene: two case reports with Sengers syndrome.Kor D, Yilmaz BS, Horoz OO, Ceylaner G, Sizmaz S, Demir F, Mungan NO(2016) Gene Technol 5:140.

5)Bir çocukta epilepsi ve McArdle hastalığı.

Faruk İncecik, Özlem M Hergüner, Gülen Mert, Şeyda Besen, Deniz Kor, Berna S Yılmaz, Neslihan Ö Mungan, Şakir Altunbaşak. Çukurova Medical Journal 2015;40 (Ek Sayı1):5-7.

6)L-2-hydroxiglutaric aciduria: Three case reports.

Faruk İncecik, Neslihan Mungan, Özlem Mihriban Hergüner, Deniz Kör, Berna Şeker Yılmaz, Şakir Altunbaşak. Cukurova Med J.2015; 39(4): 868-871.

6-PRESENTATIONS:

a)Oral Presentations on International Meetings(2014-2019)

1)17 years of Gaucher Disease experience from Çukurova University. Bulut FD, Kılavuz S, Şeker Yılmaz B, Kor D, Ballı T, Onan B, Özcan N, Gürkan E, Deniz A, Önenli Mungan N. Gaucher Disease Symposium, İstanbul, 21-22 October 2018.

2)Evaluation of bone mineral density in patients with Gaucher Disease.Kor D, Şeker Yılmaz B, Bulut FD, Kılavuz S, Soyupak S, Bişgin A, Önenli Mungan N. Gaucher Disease Symposium, İstanbul, 21-22 October 2018.

b)Oral Presentations onNational Meetings(2014-2019)

1)Erişkin lizozomal depo tanılı hastaların çocuk metabolizma polikliniği’nde izlemlerine bakış açıları: Odak grup çalışması. Bulut FD, Şeydaoğlu G, Kılavuz S, Kor D, Şeker Yılmaz B, Boz A, Önenli Mungan N. VI. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi. Antalya, 2018.

2)Mukopolisakkaridozlu olgularda enzim replasman tedavisinin kalp bulguları üzerine etkileri. Kor D, Erdem S, Bulut D, Şeker Yılmaz B, Kılavuz S, Önenli Mungan N, Özbarlas N. VI. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi. Antalya, 2018.

3)Yirmiyedi Sistinozis hastasının uzun dönem tedavi sonuçları. Şeker Yılmaz B, Kor D, Bulut FD, Kılavuz S, Atmış B, Melek E, Karabay Bayazıt A, Erdem E, Noyan A, Ceylaner S, Önenli Mungan N. VI. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi. Antalya, 2018.

4)Mukopolisakkaridoz tanısıyla takip edilen hastalarımızın değerlendirilmesi: 181 Olgu ile Çukurova Üniversitesi deneyimi.Kor D, Bulut D, Şeker Yılmaz B, Kılavuz S, Hişmi B, Ceylaner S, Kızıltaş A, Aslan N, Önenli Mungan N. VI. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi. Antalya, 2018.

5)Lizozomal depo hastalığı tanısıyla takip edilen hastalar ve ebeveynlerinin enzim replasman tedavisine bakış açıları ile bu tedavinin yaşam kaliteleri üzerine etkileri. Kılavuz S, Şeydaoğlu G, Kor D, Bulut FD, Şeker Yılmaz B, Boz A, Pınarbaşı A, Önenli Mungan N. VI. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi. Antalya, 2018.

6)Mukopolisakkaridozlu olgularda oftalmolojik bulgular: Çukurova Üniversitesi Tıp Fakültesi deneyimi. Nukhan Görkemli, İbrahim İnan Harbiyeli, Kübra Gül Ölke, Elif erdem, Deniz Kor, Neslihan Mungan, Meltem Yağmur, Reha Ersöz. TOD 52. Ulusal Kongresi, Antalya, 2018.

7)Tıp Fakültesi öğrencileri arasında ilerleyen sınıflarda kalıtsal metabolik hastalık farkındalığı artıyor mu? Halil Coşkun, Muhammed Burak Bereketoğlu, Neslihan Mungan. Çukurova Üniversitesi Ulusal Sağlık Bilimleri Araştırmaları Öğrenci Kongresi, Adana, 2018.

8)Primer ailesel hiperlipidemi tanılı 80 çocuk ve adölesanda klinik özellikleri ve bunların mutasyon analizi sonuçlarıyla ilişkisi. Kaplan İ, Önenli Mungan N,Kör D, Şeker Yılmaz B, Bulut FD, Şeydaoğlu G, Erdem S, İnal T, Kılavuz S, Ceylaner S. 14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi. Bodrum, 2017.

9)Farklı klinik prezentasyonlarla glutarik asidüri tip-II: Beş aile bir olgu.Önenli Mungan N, Bulut FD, Kör D, Şeker Yılmaz B, Oflazer P, İncecik F, Kılavuz S, Özgür Horoz Ö, Özbek MN, Yıldızdaş D. 14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi. Bodrum, 2017 .

10)İlk veriler ışığında biotinidaz eksikliğinde yenidoğan tarama programı eşik değeri ne olmalı: Çukurova deneyimi. Kılavuz S, Kör D, Şeker Yılmaz B, Bulut FD, Şahin N, Öktem M, Altınsu T, Haytoğlu Z, Akbal M, Önenli Mungan N. 3. Türk Pediatri Kurumu Genç Pediatristler Kongresi. İstanbul, 2017.

11)İlk Veriler Işığında Biotinidaz Eksikliğinde Yenidoğan Tarama Programı Eşik Değeri Ne

Olmalı? Çukurova Deneyimi. Sebile Kılavuz, Deniz Kör, Berna Şeker Yılmaz, Fatma Derya

Bulut, Nuran Şahin, Murat Öktem, Tanju Altınsu, Zeliha Haytoğlu, Melike Akbal, Neslihan

Önenli Mungan. 3. Genç Pediatristler Kongresi, 2017.

12) Mukopolisakkaridoz ve osteoporoz: Ne kadar farkındayız? Mungan NÖ, Kör D, Yılmaz BS, Bulut FD, Ballı T, Mart OO, Soyupak S. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi Kongresi, 2016.

13)İzole Metilmalonik Asidemi tanısıyla izlenen 16 olguda saptanan 5 yeni mutasyon ve uzun dönem komplikasyonlar.Şeker Yılmaz B, Kör D, Özgür Horoz Ö, Ceylaner S, Yıldızdaş D, Ökten M, Önenli Mungan N. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi. 2015.

14) 10 Pompe hastasında yüksek doz enzim replasman tedavi sonuçları.Kör D, Yılmaz Şeker B, Ceylaner S, Onay H, İcil S, Önenli Mungan N. IV. Uluslararası Katılımlı Lizozomal Depo Hastalıkları Kongresi, Antalya, 2014.

15)Gaucher tip II’de iki farklı başvuru semptomu: Kollodioan baby-hepatosplenomegali.Önenli Mungan N, Ceylaner S, Kör D, Yılmaz Şeker B, Özkınay F, İncecik F, Hergüner MÖ. IV. Uluslararası Katılımlı Lizozomal Depo Hastalıkları Kongresi. 2014.

16)Glikojen depo hastalığında hepatik tutulum: 43 olgunun değerlendirilmesi.Kör D, Şeker Yılmaz B, Bişgin A, Ceylaner G, Gönkek S, Tümgör G, Özakçaoğlu T, Önenli Mungan N. XIII. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi. 2015.

17)Fanconi Bickel sendromu: Yedi olgu, bir yeni mutasyon ve glukoz tolerans bozukluğu. Şeker Yılmaz B, Kör D, Karabay Bayazıt A, Ceylaner S, Topaloğlu AK, Yüksel B, Anarat A, Önenli Mungan N. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi. 2015.

18)NPC 1 geninde yeni bir intronik mutasyon saptanan 2 erişkin olgu.Kör D, Şeker Yılmaz B, Bıçakçı Ş, Koç F, Ceylaner S, Çiftçi Kokaçya M, Önenli Mungan N. IV. Uluslararası Katılımlı Lizozomal Depo Hastalıkları Kongresi. 2014.

c)Poster Presentations on International Meetings

1)Hepatocerebral mitochondrial DNA depletion syndrome: A Turkish case with a MPV17 gene mutation. Şeker Yılmaz B, Bulut FD, Kilavuz S, Kor D, Arikan Ç, Ağın M, Önenli Mungan N. 14th MEMG meeting 2018, Greece.

2)Results of treatment with Taliglucerase-alfa for six months in three patients with Gaucher Disease.Kor D, Kılavuz S, Bulut FD, Şeker Yılmaz B, Ökten M, Bozdoğan S, Önenli Mungan N. Gaucher Disease Symposium, İstanbul, 21-22 October 2018.

3)Gaziantep ilinde 15-19 yaş lise öğrencilerinde uykuyla ilişkili sorunlar. Kor D, Kutluhan Yılmaz. 4. INES International Academic Research Congress, Antalya 30 Ekim-3 Kasım 2018.

4)Two late diagnosed cases: GTPCH deficiency and DHPR deficiency. Bulut FD, Şeker Yılmaz B, Kılavuz S, Kor D, Herguner O, Önenli Mungan N. 14th MEMG meeting 2018, Greece.

5)An interesting family: A cousin with carbonic anyhdrase deficiency type II together with Galloway-Mowat Syndrome and another two cousins with arginase deficiency.Önenli Mungan N,Kor D, Bulut FD, Şeker Yılmaz B, Kılavuz S. 14th MEMG meeting 2018, Greece.

6)Congenital erythropoietic porphyria: A case report. Kılavuz S, Kor D, Bulut D, Şeker Yılmaz B, Önenli Mungan N. 14th MEMG meeting 2018. Greece.

7)A novel FASTKD2 gene mutation presenting with mitochondrial cytochrome c oxidase deficiency. Şeker Yılmaz B, Kor D, Bulut FD, Kılavuz S, Önenli Mungan N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

8)Motor function evaluation of 17 Turkish infantile Pompe patients: Çukurova University experience. Kılavuz S, Başaran S, Kor D, Bulut FD, Şeker Yılmaz B, Erdem S, Mungan HN. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

9)A novel missense homozygous mutation in SLC1A4 gene in two cousins with hydrocephalus and polyneuropathy.Kor D, Şeker Yılmaz B, Kılavuz S, Bulut FD, Özgür Horoz Ö, Gül Mert G, Önenli Mungan HN. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

10)3-MCC deficiency: Seven cases with different clinical severity ranging from an asyptomatic mother to a bedridden course.Önenli Mungan HN,Kor D, Kırık S, Kılavuz S, Şeker Yılmaz B, Bulut FD, Keleş H, Haytoğlu Z, Yıldızdaş RD, Okuyaz Ç. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

11)A single center experience of thirty five Glutaric Aciduria type 1 patients. Kılavuz S, Bulut FD, Kor D, Şeker Yıllmaz B, Özcan N, Şahin MA, Ceylaner G, Mungan HN. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

12)Four cases with Hydrolethalus Syndrome-1: First report of a Turkish family. Bulut FD, Şeker-Yılmaz B , Kılavuz S, Kor D, Bayazıt AK, Ekinci F, Mungan NÖ. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

13)Cerebellar ataxia and seizures: Coenzyme Q10 deficiency in a patient with a novel mutation in ADCK3 Gene. Şeker Yılmaz B, Kor D, Bulut FD, Kılavuz S, Önenli Mungan HN. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

14)Unique coexistence of Wilson Disease and Pontocerebellar Hypoplasia type 1c in a

family with a milder course. Bulut FD, Kılavuz S, Kor D, Şeker-Yılmaz B, Özcan N, Yavuz S,Ceylaner G, Mungan NÖ. A. Annual Symposium of the Society for the Study of Inborn Errorsof Metabolism. 4-7 September, 2018. Greece.

15)Prominent cardiac involvement and skeletal findings in multiple congenital anomalies-hypotonia-seizures syndrome.Kor D, Yılmaz B, Bulut FD, Kılavuz S, İkikardeş F, Ballı T, Erdem E, Başaran S, Mungan N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

16)Glycogen storage disease type V: Çukurova University experience. Bulut FD, Kılavuz S, Şeker-Yılmaz B, Kor D, Aslan N, Atmış B, İncecik F, Altunbaşak S, Mungan NÖ. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

17)Mitochondrial neuro-gastrointestinal encephalomyopathy presenting with severe weight loss and bowel pseudoobstruction. Kılavuz S, Kor D, Bulut FD, Şeker-Yılmaz B, Melek E, Bayazıt AK, Mungan NÖ. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

18)Late diagnosis of a phenylketonuria patient with isolated psychiatric problems. Bulut FD, Kılavuz S, Şeker-Yılmaz B, Kor D, Çelik GG, Hergüner O, Kaltar T, Mungan NÖ. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

19)Case of SURF1 associated Leigh Syndrome.Önenli Mungan HN, Kılavuz S, Bulut FD, Şeker Yılmaz B, Kor D. A Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

20)Primary systemic carnitine deficiency coexistence with type 1 diabetes: A Case report . Şeker Yılmaz B, Bulut D, Kılavuz S, Kor D, Gürbüz F, Demir F, Önenli Mungan N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

21)Acute Intermittant Porphyria: 19 Cases from Çukurova University the clinical course of one case with prophylactic hemin infusions.Önenli Mungan N,Kor D, Yılmaz B, Bulut D, Kılavuz S, Leblebisatan G, İncecik F, Öktem M. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

22)Coexistence of skeletal dysplasia with X-linked ichthyosis caused by a large deletion in STS Gene.Kor D, Bulut D, Kılavuz S, Şeker Yılmaz B, Ceylaner S, Onan H B, Önenli Mungan N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 4-7 September, 2018. Greece.

23)Çukurova University experience of lysosomal diseases in adulthood: Report of 57 patients.Mungan N, Bulut FD, Şeker-Yılmaz B, Kılavuz S, Kor D, Koç F, Gürkan E, Paydaş Güvenç B, Atmış B, Deniz A. Lysosomal Diseases (WORLD) Symposium, San Diego, Feb 05-09, 2018.

24)Mucopolysaccharidosis type VI,9 sibling pairs and 1 set of three siblings: Single center experience from Turkey. Mungan N, Bulut FD, Kor D, Şeker-Yılmaz B, Kılavuz S, Onan B, Başaran S, Beşen S, Dağkıran M, Demir F, Ekinc, F, Tolunay I. Lysosomal Diseases (WORLD) Symposium, San Diego, Feb 05-09, 2018.

25)Early onset Alpha-mannosidosis: A Turkish case.Mungan N, Yılmaz BS, Kor D, Bulut D, Kılavuz S, Erdem S. Lysosomal Diseases (WORLD) Symposium, San Diego, Feb 05-09, 2018.

26)A case with Pallister-Killian syndrome misdiagnosed as mucopolysaccharidosis. Mungan N, Kılavuz S, Bulut D, Kor D, Yılmaz B, Ceylaner S. Lysosomal Diseases (WORLD) Symposium, San Diego, Feb 05-09, 2018.

27)Is there a difference between the onset of visceral symptoms and genotype of Gaucher Disease type 1 and type 3? Çukurova University experience. Kılavuz S, Kor D, Şeker Yılmaz B, Bulut FD, Hergüner Ö, Yöntem A, Demir F, Önenli Mungan N. Gaucher Disease Symposium, İstanbul, 21-22 October 2018.

28)An interesting case report of type 3 Gaucher Disease with vasculitis-like skin manifestations. Şeker Yılmaz B, Bulut D, Kor D, Kılavuz S, Yılmaz M, Balcı S, İncecik F, Önenli Mungan N. Gaucher Disease Symposium, İstanbul, 21-22 October 2018.

29)Gaucher Disease type 1 and keratoconus: A very rare manifestation in three siblings.Kor D, Şeker Yılmaz B, Kılavuz S, Bulut FD, Erdem E, Leblebisatan G, Gül Mert G, Önenli Mungan N. Gaucher Disease Symposium, İstanbul, 21-22 October 2018.

30)Early onset of acute neuronopathic Gaucher Disease mimicking apneic spells: A case report with a novel mutation. Şeker Yılmaz B, Erol İ, Bulut D, Kılavuz S, Kor D, Ceylaner S, Yıldızdaş D, Önenli Mungan N. Gaucher Disease Symposium, İstanbul, 21-22 October 2018.

31)Successful cardiovascular surgery experience and high dose enzyme replacement therapy in Gaucher disease type IIIC: Report of three unrelated cases.Önenli Mungan N, Bulut D, Ok S, Gülcan Ö, Deniz A, Erdem S, Kör D, Şeker Yılmaz B, Kılavuz S, Özbarlas N. 13 th Annual World Symposium. 13-17 February, 2017, USA.

32)Mutations of phenylalanine hydroxylase gene detected in 536 patients from southeastern part of Turkey. Kılavuz S, Ceylaner G, Bulut FD, Kör D, Seker Yılmaz B, Bisgin A, Öztürk Hişmi B, Öz S, Seydaoğlu G, Önenli Mungan N. 13 th International Congress of Inborn Errors of Metabolism. 5-8 September, 2017. Brazil.

33)Efficiency of Sapropterin dihidrochloride in 112 Turkish phenylketonuria patients. Kılavuz S, Şeker Yılmaz B, Seydaoğlu G, Kör D, Bulut FD, Ceylaner S, Önenli Mungan N. 13 th International Congress of Inborn Errors of Metabolism. 5-8 September, 2017. Brazil.

34)Clinical-molecular features and outcome of 20 Turkish patients with urea cycle disorders.Kör D, Şeker Yılmaz B, Bulut FD, Kılavuz S, Satar M, Hergüner Ö, Öztürk Hismi B, Sarı Gökay S, Tolu Kendir Ö, Önenli Mungan N. 13 th International Congress of Inborn Errors of Metabolism. 5-8 September, 2017. Brazil.

35)L-2-hydroxyglutaric aciduria case series.Bulut FD, Kör D, Kılavuz S, Şeker Yılmaz B, İncecik F, Hergüner Ö, Öktem M, Demirkıran M, Altunbaşak Ş, Önenli Mungan N. 13 th International Congress of Inborn Errors of Metabolism. 5-8 September, 2017. Brazil.

36)TMEM70 mutation in an Turkish infant with volvulus, hypertrophic cardiomyopathy, Wolff Parkinson White syndrome, hypotonia, and dysmorphism.Önenli Mungan N, Bulut FD, Demir F, Kılavuz S, Kör D, Şeker Yılmaz B, Altunbaşak Ş, Horoz Özgür Ö, Erdem S, Özbarlas N. 13 th International Congress of Inborn Errors of Metabolism. 5-8 September, 2017. Brazil.

37)Next generation exome sequencing in the molecular diagnosis of primary hypobetalipoproteinemias: Report of four Turkish cases. Seker Yılmaz B, Tarugi P, Kör D, Leo Di E, Bulut FD, Rabacchi C, Kılavuz S, Önenli Mungan N. 13 th International Congress of Inborn Errors of Metabolism. 5-8 September, 2017. Brazil.

38)A case report of a 6 years old Turkish patient with neonatal adrenoleukodystrophy and mutation in the PEX26 gene. Kılavuz S, Bulut FD, Seker Yılmaz B, Kör D, Yüksel B, Hergüner Ö, Ceylaner G, Önenli Mungan N. 13 th International Congress of Inborn Errors of Metabolism. 5-8 September, 2017. Brazil.

39)Pheno-genotypic features and long-term enzyme replacement treatment results of 18 Turkish mucopolysaccharidosis type II patients from a single center.Kör D, Seker Yılmaz B, Bulut FD, Kılavuz S, Sızmaz S, Ballı T, Onan HB, Mansuri D, Dağkıran M, Önenli Mungan N. 13 th International Congress of Inborn Errors of Metabolism. 5-8 September, Brazil. 2017.

40)Mucopolysaccharidosis type III: Case series from Turkey. Bulut FD, Kör D, Şeker Yılmaz B, Kılavuz S, Özbek MN, Soyupak S, Erdem E, Ballı T, İncecik F, Önenli Mungan N. 13 th International Congress of Inborn Errors of Metabolism. 5-8 September, 2017. Brazil.

41)The clinical and demographic features of 23 Niemann-Pick type A/B patients from South and Southeast parts of Turkey. Önenli Mungan N,Kör D, Şeker Yılmaz B, Bulut FD, Kılavuz S. 13 th International Congress of Inborn Errors of Metabolism. 5-8 September, 2017. Brazil.

42)The clinical features and diagnosis of metachromatic leukodystrophy: A case series of Turkish pediatric patients with three novel mutations. Şeker Yılmaz B, Kılavuz S, Bulut FD, Kör D, Hergüner Ö, Akbal M, Özcan N, Önenli Mungan N. 13 th International Congress of Inborn Errors of Metabolism. 5-8 September, 2017. Brazil.

43)Recurrent acute liver failure in a family with NBAS gene mutation and successful liver transplantation: First cases from Turkey.Önenli Mungan N, Yıldızdaş D, Arıkan Ç, Tümgör G, Kör D, Bulut FD, Şeker Yılmaz B, Kılavuz S. 13 th International Congress of Inborn Errors of Metabolism. 5-8 September, 2017. Brazil.

44)Autosomal recessive infantile osteopetrosis: Three cases with three novel mutations. Şeker Yılmaz B, Kör D, Bulut FD, Kılavuz S, Bayram İ, Leblebisatan G, Şaşmaz İ, Önenli Mungan N. 13 th International Congress of Inborn Errors of Metabolism. 5-8 September, 2017. Brazil.

45)Chanarin-Dorfman Syndrome: A case report. Önenli Mungan N, Tuncez E, Seker Yılmaz B, Leblebisatan G, Kunt Z, Bulut D, Kör D. World Symposium. 29 February-3 March, 2016; U.S.A.

46)5-Oxoprolinase deficiency: Report of three siblings and a case with two new compound heterozygous mutations and the clinical diversity even in the same family.Önenli Mungan N, Şeker Yılmaz B, Bulut FD, Öktem M, Kör D, Ceylaner G, Hergüner Ö. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 6-9 September, 2016. Italy.

47)Two siblings with neonatal-onset Dubin-Johnson Syndrome and hypothyroidism harboring a novel mutation in the ABCC2 gene.Kör D, Şeker Yılmaz B, Bulut FD, Ceylaner S, Topaloğlu AK, Önenli Mungan N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 6-9 September, 2016.Rome, Italy.

48)Farber disease: A case report with a novel mutation.Önenli Mungan N, Bulut FD, Şeker Yılmaz B, Kör D, Ceylaner S. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 6-9 September, 2016. Italy.

49)İnfantile sialic acid storage disease: A novel mutation in the SLC17A5.Kör D, Şeker Yılmaz B, Bulut D, Bisgin A, İncecik F, Önenli Mungan N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 6-9 September, 2016. Italy.

50)Apheresis therapy in patients with homozygous familial hypercholesterolemia. Kekeç İ, Şeker Yılmaz B, Kör D, Bulut FD, Tekinturhan F, Eren H, Önenli Mungan N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 6-9 September, 2016. Italy.

51)A novel mutation of the SLC4A4 gene in a Turkish patient with isolated proximal renal tubular acidosis and systemic involvement. Şeker Yılmaz B, Kör D, Bulut FD, Melek E, Ceylaner G, Eren H, Önenli Mungan N.Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 6-9 September, 2016. Italy.

52)Coexistence of glycogen storage disease type III and haemophilia B in two brothers. Bulut FD, Şeker Yılmaz B, Kör D, Shin YS, Leblebisatan G, Tümgör G, Gönkek S, Yüksel B, Önenli Mungan N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 6-9 September, 2016. Italy.

53)Development of a suspicion index tool to help diagnosis of Gaucher disease. Bulut FD, Şeker Yılmaz B, Kör D, Seydaoğlu G, Özbek MN, Şaşmaz Hİ, Soyupak S, Ceylaner S, Önenli Mungan N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 6-9 September, 2016. Italy.

54)30 infantile pompe patients with 40 mg/kg/biweekly enzyme replacement treatment and 23 survival: A single center experience from Turkey.Önenli Mungan N,Kör D, Şeker Yılmaz B, Bulut FD, Erdem S, Demir F, Eren H, Özbarlas N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 6-9 September, 2016. Italy.

55)Renal impairment in methylmalonic aciduria: A review of six cases. Şeker Yılmaz B, Bulut FD, Kor D, Karabay Bayazıt A, Yıldızdaş D, Anarat A, Önenli Mungan N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 6-9 September, 2016. Italy.

56)Phenotypic and genotypic features and long term follow-up 36 Turkish galactosemia patients.Kör D, Şeker Yılmaz B, Bulut FD, Öktem M, Kolaşin P, Önenli Mungan N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 6-9 September, 2016. Italy.

57)Mitochondrial encephalomyopathy or not? A case with diagnostic dilemma.Önenli Mungan N, Bulut D, Şeker Yılmaz B, Kör D, Ceylaner S, İncecik F, Özgür Horoz Ö, Kılavuz S, Laleli Y. 13 th MEMG Meeting. 28-30 October, 2016. Jordan.

58)3-methylcrotonyl-Coa Carboxylase deficiency presenting as West syndrome in the neonatal period. Yilmaz BS, Bulut FD, Kor D, Ceylaner S, Okuyaz C, Mungan NÖ. Middle East Metabolic Group,13th MEMG Meeting, 28-30 October, 2016. Jordan.

59)Ornithine aminotransferase deficiency: Two siblings fromTurkey with a new mutation.Mungan NÖ, Ünal O, Bulut FD, Yılmaz BS, Gönkek S, Kartal E, Ceylaner G, Laleli Y. 16. Annual Meeting of Korean Society of Inherited Metabolic Diseases, 2016.

60)Chanarin-Dorfman syndrome: A case report. Önenli Mungan N, Tuncez E, Seker Yilmaz B, Leblebisatan G, Kunt Z, Bulut D, Kor D. 12 th Annual World Symposium, 29 February-4 March, 2016, USA.

61)Ethylmalonic encephalopathy: Diagnosis of a Turkish case after unknown death of two children in the family.Önenli Mungan N,Kor D, Seker Yilmaz B, Bulut D, Mert G, Incecik F, Ceylaner S Annual Symposium of the Society for the Inborn Error of Metabolism. 1-4 September 2015.France.

62)Fructose 1,6-biphosphatase (FBP) deficiency in early childhood: 5 Turkish cases. Bulut D, Seker Yilmaz B, Kor D, Ceylaner S, Ozgur Horoz O, Önenli Mungan N Annual Symposium of the Society for the Inborn Error of Metabolism. 1-4 September 2015.France.

63)Awareness study of Gaucher disease from Southeast part of Turkey. Bulut D, Kor D, Seker Yilmaz B, Ozbek MN, Önenli Mungan N. Annual Symposium of the Society for the Inborn Error of Metabolism. 1-4 September 2015.France.

64)Farber disease: a case report with a novel mutation.Önenli Mungan N, Seker Yilmaz B, Bulut D, Kor D, Ceylaner S Annual Symposium of the Society for the Inborn Error of Metabolism. 1-4 September 2015.France.

65)Mutations causing biotinidase deficiency in children detected by newborn screening in south eastern Turkey. Seker Yilmaz B, Kor D, Ceylaner S, Oktem M, Ceylaner G, Bulut D, Altinsu T, Onenli Mungan N. Annual Symposium of the Society for the Inborn Error of Metabolism. 1-4 September 2015.France.

66)Primary systemic carnitine deficiency: Two turkish cases with two novel SLC22A5 mutations. Seker Yilmaz B, Kor D, Kucukosmanoglu O, Bulut D, Ceylaner G, Oktem M, Önenli Mungan N Annual Symposium of the Society for the Inborn Error of Metabolism. 1-4 September 2015. France.

67)Netherton syndrome: SPINK5 gene mutation found through whole exome sequencing. Seker Yilmaz B, Kor D, Ceylaner S, Bulut D, Yilmaz M, Önenli Mungan N. Annual Symposium of the Society for the Inborn Error of Metabolism. 1-4 September 2015.France.

68)Report of five Turkish patients with ketolysis defects and four novel mutations.Önenli Mungan N, Şeker Yılmaz B, Kör D, Bulut FD Ökten M, Yıldızdaş D, Ceylaner S, Fukao T. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 1-4 September 2015.France.

69)Effect of divided daily doses of sapropterin in phenylketonuria.Kör D, Şeker Yılmaz B, Bulut FD, Yolburun G, Gönkek S, Özakçaoğlu T, Ceylaner S, Önenli Mungan N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 1-4 September, 2015.France.

70)A desensitization method to maintain ERT in Mucopolysaccharidosis type VI.Kör D, Şeker Yılmaz B, Bulut FD, Altıntaş D, Önenli Mungan N. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 1-4 September, 2015. France.

71)Disease perception among the mothers of PKU children. Burgut O, Önenli Mungan N, Gürsoy A, Kör D, Şeker Yılmaz B. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Austria, 2-5 September, 2014.

72)A novel missense mutation in the AGK gene: Sengers syndrome. Şeker Yılmaz B, Kör D, Önenli Mungan N, Özgür Horoz O, Yıldızdaş D, Erdem S, Ceylaner S. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Austria, 2-5 September, 2014.

73)Glycogen storage disase XII complicated with hemizygous Duchenne muscular dystrophy mutation.Önenli Mungan N, Şeker Yılmaz B, Kör D, Ceylaner S, Zorludemir S, İncecik F, Hergüner MO. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Austria, 2-5 September, 2014.

74)An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.Kör D, Önenli Mungan N, Ökten M, Şeker Yılmaz B, Ceylaner S. Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Austria, 2-5 September, 2014.

75)Gaucher disease type II or type III: Acase report of an intermediate form with a new mutation. Seker Yilmaz B, Kor D, Incecik F, Ozkinay F, Herguner MO, Mungan NÖ. 13 th Annual World Symposium, San Diego,USA, February 10–13-2014.

76)A first Turkish case report of a colloidan baby with a postmortem diagnosis of type II Gaucher Disease and a novel mutation detected by exom sequencing.Önenli Mungan N, Ceylaner S, Balci S, Kor D, Seker Yilmaz B. 13 th Annual World Symposium, San Diego, USA, February 10–13, 2014.

7-PROFESIONAL MEMBERSHIPS

1)Çocuk Metabolizma ve Beslenme Derneği

2) Türk Tabipleri Birliği

8-SCIENTIFIC PROJECTS(2014-2019)

a)International Scientefic Projects:

2) Tip 1 ve tip 3 Gaucher hastalığına sahip pediyatrik hastalarda eliglustatın farmakokinetik, güvenlilik ve etkililiğini değerlendiren açık etiketli, iki kohortlu (imugluserazla birlikte olan ve olmayan), çok merkezli çalışma.13.06.2018-

3) A Multicenter, open-label study of Sebelipase Alfa in patients with lysosomal acid lipase deficiency. 15.04.2014-10.12.2017.

b)National Scientefic Projects Supported by International Organizations:

1) Niemann Pick-C tanı yöntemlerine ve hastalığın seyrine ilişkin bilgi toplama amaçlı müdahalesiz epidemiyolojik kayıt çalışması (National). 02.05.2011-12.12.2016.

2) MPS IVA tanısı almış ≤5 yaş hastalarda VIMIZIM (elosülfaz alfa) tedavisinin insani amaçlı ilaca erken erişim programı. 01.06.2016-

9-EDITORIAL ACTIVITIES

10-CITATIONS ON WEB of SCIENCE(2014-2019)

1.Four Gaucher disease type II patients with three novel mutations: A single centre experience from Turkey.(1)

Bulut FD, Kör D, Şeker-Yılmaz B, Hergüner Ö, Ceylaner S, Özkınay F, Kılavuz S, Önenli-Mungan N. Metab Brain Dis. 2018 Aug;3 3(4): 1223-1227. doi: 10.1007/s11011-018-0236-0. Epub 2018 Apr 14.

2.p.Val452Ile mutation of the SLC25A13gene in a Turkish patient with citrin deficiency.(1)

Şeker-Yılmaz B, Kör D, Tümgör G, Ceylaner S, Önenli-Mungan N.Turk J Pediatr. 2017; 59(3): 311-314. doi: 10.24953/turkjped.2017.03.012.

3.Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone.(7)

Önenli Mungan N, Yıldızdaş D, Kör D, Horoz ÖÖ, İncecik F, Öktem M, Sander J. Metab Brain Dis. 2016 Oct; 31(5): 1181-3. doi: 10.1007/s11011-016-9833-y. Epub 2016 May 17.

4.A desensitization method to maintain enzyme replacement therapy in Mucopolysaccharidosis type VI.(1)

Kör D, Şeker Yilmaz B, Bulut FD, Önenli Mungan N, Ufuk Altıntaş D. J Investig Allergol Clin Immunol. 2016; 26(2): 130-2. doi: 10.18176/jiaci.0030..

5.Blue-colored sweating: Four infants with apocrine chromhidrosis.(3)

Yöntem A, Kör D, Hızlı-Karabacak B, Karakaş M, Önenli-Mungan N. Turk J Pediatr. 2015 May-Jun; 57(3): 290-3.

6.X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms.(1)

İncecik F, Hergüner MÖ, Mert G, Önenli-Mungan N, Ceylaner S, Kör D, Altunbaşak Ş. Turk J Pediatr. 2014 Nov-Dec; 56(6): 651-3.

7.Molecular analysis of Turkish Maroteaux-Lamy patients and identification of one novel mutation in the arylsulfatase B (ARSB) gene.(6)

Zanetti A, Önenli-Mungan N, Elcioglu N, Ozbek MN, Kör D, Lenzini E, Scarpa M, Tomanin R. JIMD Rep.2014; 14: 1-9. doi: 10.1007/8904_2013_276. Epub 2013 Nov 16.

8.Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: A report of 203 patients from the Southeastern part of Turkey.(1)

Seker Yilmaz B, Mungan NÖ, Kor D, Bulut D, Seydaoglu G, Öktem M, Ceylaner S. J Pediatr Endocrinol Metab.2018 Mar 28; 31(3): 339-343. doi: 10.1515/jpem-2017-0406.

9. Propionic acidemia: A Turkish case report of a successful pregnancy, labor and lactation.(1)

Mungan NÖ, Kör D, Büyükkurt S, Atmış A, Güleç Ü, Satar M. J Pediatr Endocrinol Metab. 2016Jul 1; 29(7): 863-6. doi: 10.1515/jpem-2015-0451

10.Homozygous familial hypobetalipoproteinemia: A Turkish case carrying a missense mutation in apolipoprotein B.(8)

Yilmaz BS, Mungan NO, Di Leo E, Magnolo L, Artuso L, Bernardis I, Tumgor G, Kor D, Tarugi P. Clin Chim Acta. 2016 Jan 15; 452: 185-90. doi: 10.1016/j.cca.2015.11.017. Epub 2015 Nov 22.

11.Brown-Vialetto-Van Laere syndrome: Two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin.(1)

Horoz OO, Mungan NÖ, Yildizdas D, Hergüner Ö, Ceylaner S, Kör D, Waterham H, Coskun T. J Pediatr Endocrinol Metab. 2016 Feb; 29(2): 227-31. doi: 10.1515/jpem-2015-0198.

12.Primary systemic carnitine deficiency: A Turkish case with a novel homozygous SLC22A5mutation and 14 years follow-up.(3)

Yilmaz BS, Kor D, Mungan NÖ, Erdem S, Ceylaner S. J Pediatr Endocrinol Metab. 2015 Sep; 28(9-10): 1179-81. doi: 10.1515/jpem-2014-0528.

13.An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.(4)

Kör D, Mungan NÖ, Yılmaz BŞ, Öktem M. J Pediatr Endocrinol Metab. 2015 May; 28(5-6): 669-71. doi: 10.1515/jpem-2014-0302.

14.Two novel missense mutations in nonketotic hyperglycinemia.(4)

Yilmaz BS, Kor D, Ceylaner S, Mert GG, Incecik F, Kartal E, Mungan NÖ. J Child Neurol. 2015May; 30(6): 789-92. doi: 10.1177/0883073814535499. Epub 2014 May 16.

15.Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose.

Kör D, Yılmaz BŞ, Bulut FD, Ceylaner S, Mungan NÖ. J Pediatr Endocrinol Metab. 2017 Jul 26; 30(7): 713-718. doi: 10.1515/jpem-2016-0461. (1)

16.A case report of a very rare association of Tyrosinemia type I and pancreatitis mimicking neurologic crisis of Tyrosinemia type I.(4)

Uçar HK, Tümgör G, Kör D, Kardaş F, Mungan NÖ. Balkan Med J. 2016 May; 33(3): 370-2. doi: 10.5152/balkanmedj. 2016.141074. Epub 2016 May 1.