Date
of birth : 1982 – Turkey
Marital Status: Married, One
children
Education
1998 – 2004 Uludağ University Medical School Bursa - Turkey
2000 MD, 5th graduate degree
Postgraduate training:
- İzmir Behçet Uz Children Hospital / Registrar
in Department of Pediatrics/ November 2005- September 2010
Thesis: Evaluation of p
dyspersion as a finding of autonomic dysfunction in children with vasovagal syncope
- Ege University Medical
School Hospital / Registrar in Department of Pediatrics /Metabolism
Unit / November 2011 (Prof.Dr.Mahmut
Çoker)
- Behçet Uz Children
Training and Research Hospital, Department of Pediatrics /Metabolism Unit
, February, 2015
- PhD Program on Genetics,
Ege University Medical Faculty, August 2017 (Prof.Dr.Ferda Özkınay)
- Ongoing Projects:
- Autophagy in Activator
Protein Deficiencies (Izmir
Institute of Technology)
Presantation in international
congress
Poster Presantations:
1.
Melis Köse, Mehtap
Kağnıcı, Ebru
Canda,Sema
Kalkan Uçar, Mahmut Çoker.Is it possible to evaluate dopaminergic activity in
gaucher disease by measuring
prolactin concentration? SSIEM 2012 Conference , Birmingham ,UK
2.
Melis
Köse, Ebru Canda , Hüseyin Onay, Serkan Kurtgöz,
Mehtap Kağnıcı, Sema Kalkan Uçar, Sara Habif , Oya Bayındır, Ferda Özkınay, Mahmut Çoker. A new case wıth bıotınıdase defıcıency and alcaptonurıa ,
SSIEM
2012 Conference , Birmingham ,UK
3.
Ebru
Canda, Melis Köse, Mehtap Kağnıcı,
Sema Kalkan Uçar, Mahmut Çoker .Follow-up of mucopolysaccharidosis Type IVa
Patients:Ege University Experience SSIEM 2012
Conference , Birmingham ,UK
4.
Mehtap Kağnıcı , Ebru Canda , Melis Köse , Zülal Ülger , Sema
Kalkan Uçar , Ertürk Levent , Ruhi Özyürek , Mahmut Çoker . Evaluation of
cardiac manifestations in muchopolysaccharidoses , SSIEM 2012 Conference
, Birmingham ,UK
5.
Mehtap Kağnıcı, Emin Karaca, Ebru Canda, Melis Köse, Sema Kalkan
Uçar, Gül Serdaroğlu,Ferda
Özkınay, Sarenur Gökben, Mahmut Çoker . Metachromatic leukodystrophy ın assocıatıon
wıth hirschsprung dısease, a case report , SSIEM 2012 Conference
, Birmingham ,UK
6.
Ebru Canda, Mehtap Kağnıcı, Melis Köse,
Sema Kalkan Uçar, Mahmut Çoker .Follow-up of gaucher patıents: Ege
Unıversıty experıence , SSIEM 2012 Conference , Birmingham ,UK
7. Eser Yıldırım Sözmen, Sündüs Ekinci , Mehtap Kağnıcı,
Ebru Canda, Melis Köse, Sema Kalkan Uçar, Mahmut Çoker.Lysosomal Enzyme
assay datas of Ege University Metabolism
Labaratory. III.Turkish National Lysosomal Sorage Disorders Congress 2012
,Cyprus
8.
Melis Köse, Ebru Canda, Mehtap
Kağnıcı, Yasemin Atik Altınok, Sema Kalkan Uçar, Mahmut Çoker . Fatty liver and
dyslipidemia as an important clues for diagnosis of cholesterol ester storage
disease , IX. Turkish National Gastroenterology and Hepatology Congress 2012 ,
Antalya , Turkey
9.
Melis Köse , Mehtap Kağnıcı , Ebru
Canda, Sema Kalkan Uçar, Yasemin Atik Altınok, Funda
Özgenç, Sema Aydoğdu, Raşit Vural Yağcı,
Mahmut Çoker . Follow-up aminoacidopathies as metabolic liver disease : Ege Unıversıty experıence , IX. Turkish National Gastroenterology and Hepatology Congress 2012 ,
Antalya , Turkey
10.
Ebru Canda , Melis Köse , Mehtap Kağnıcı , Sema Kalkan Uçar ,
Funda Özgenç , Sema Aydoğdu , Raşit Vural Yağcı , Mahmut Çoker. Congenital
organel diseases of liver : Ege Unıversıty experıence , IX. Turkish National
Gastroenterology and Hepatology Congress 2012 , Antalya , Turkey
11.
Mehtap Kağnıcı
, Ebru Canda , Melis Köse ,
Sema Kalkan Uçar , Funda Özgenç , Sema Aydoğdu , Raşit Vural Yağcı , Mahmut
Çoker .Congenital carbonhydrate metabolism disorders of liver: Ege Unıversıty experıence , IX.
Turkish National Gastroenterology and Hepatology Congress 2012, Antalya ,
Turkey
12. Melis
Köse, Ebru Canda, Mehtap
Kağnıcı, Yasemin Atik Altınok, Sema Kalkan Uçar, Ertürk Levent, Mahmut Çoker: Dispersion of the P wave and QT segment as a test for
cardiac autonomic function in Phenylketonuria.
ICIEM 2013, 12th International Congress of Inborn Errors of Metabolism, 3 – 6 September 2013, Barcelona.
13. Melis
Köse, Ebru Canda, Mehtap Kağnıcı,
Sema Kalkan Uçar, Kimiyochi Ichida, Mahmut Çoker: A novel
mutation in a Turkish case with molybdenum cofactor
deficiency. ICIEM 2013, 12th
International Congress of Inborn Errors of Metabolism, 3 – 6 September 2013, Barcelona.
14. Melis
Köse, Ebru Canda, Mehtap Kağnıcı,
Rana İşgüder, Sema Kalkan Uçar, Bähr L, Britschgi C, Sass JO, Çoker M: Different clinical presentations
in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency. ICIEM 2013, 12th International Congress of
Inborn Errors of Metabolism, 3 – 6
September 2013, Barcelona.
15. Melis
Köse, Mehtap Kağnıcı, Ebru
Canda, Sema Kalkan Uçar, Gülden Diniz Ünlü, Robert Taylor, Garry Brown, Mahmut Çoker:
A case report of COX
deficient leigh syndrome due to SURF1 gene mutation. ICIEM 2013, 12th International Congress of
Inborn Errors of Metabolism, 3 – 6
September 2013, Barcelona.
16. Melis
Köse, Mehtap Kağnıcı, Ebru
Canda, Can Balkan, Mahmut Çoker: Platelet function and coagulation abnormalities in Gaucher disease
patients. ICIEM 2013, 12th
International Congress of Inborn Errors of Metabolism, 3 – 6 September 2013, Barcelona.
17. Melis
Köse, Mehtap Kağnıcı, Ebru
Canda, Nihal Karadaş, Volkan Okur, Asude Alpman, Sema Kalkan Uçar, Hüseyin Onay,
Eser Yıldırım Sözmen, Deniz Karapınar, Ferda Özkınay, Mahmut Çoker: Coexistence of Gaucher disease
and severe congenital neutropenia in Turkish patient. ICIEM 2013, 12th International Congress of
Inborn Errors of Metabolism, 3 – 6
September 2013, Barcelona.
18. Melis
Köse, Ebru Canda, Mehtap Kağnıcı,
Sema Kalkan Uçar, Ertürk Levent, Mahmut Çoker: Follow-up our pediatric patients with lipoprotein
(a) axcess. ICIEM 2013, 12th
International Congress of Inborn Errors of Metabolism, 3 – 6 September 2013, Barcelona.
19. Ebru Canda,
Melis Köse, Mehtap Kağnıcı, Serkan Kurtgöz,
Ömer Kitiş, Sema Kalkan Uçar, Mahmut Çoker: Female child with X linked
adrenoleukodystrophy. ICIEM 2013, 12th International Congress of Inborn
Errors of Metabolism, 3 – 6 September
2013, Barcelona.
20. Ebru Canda,
Melis Köse, Mehtap Kağnıcı, Sema Kalkan
Uçar, Mahmut Çoker: Adult MPS VI patient diagnosed with
cardiac manifestations. ICIEM 2013, 12th International Congress of Inborn
Errors of Metabolism, 3 – 6 September
2013, Barcelona.
21. Ebru Canda, Melis Köse, Mehtap Kağnıcı, Ayça Aykut, Sema Kalkan Uçar, Hüseyin
Onay , Ferda Özkınay, Mahmut Çoker: Follow-up of Niemann Pick type B patients: Ege University experience. ICIEM 2013, 12th International Congress of
Inborn Errors of Metabolism, 3 – 6
September 2013, Barcelona.
22. Mehtap Kağnıcı, Melis Köse, Ebru Canda, Miray Karakoyun, SemaKalkan Uçar , Funda
Özgenç , Mahmut Çoker : Hepatocellular carcinoma in hereditary tyrosinemia, a
case report. ICIEM 2013, 12th International Congress of Inborn Errors of
Metabolism, 3 – 6 September 2013,
Barcelona.
23. Ebru Canda, Mehtap Kağnıcı, Melis Köse, Betül Sözeri, Asude Alpman,
Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker: Niemann Pick type B patient with
arthritis: should we think Niemann Pick type B disease for the differential
diagnosis of rheumatologic disorders. ICIEM 2013, 12th International Congress of Inborn Errors of
Metabolism, 3 – 6 September 2013,
Barcelona.
24. Ebru Canda, Mehtap Kağnıcı, Melis Köse, Sema Kalkan Uçar , Mahmut Çoker:
Follow-up of Niemann
Pick type C patients: Ege University experience. ICIEM 2013, 12th International Congress of Inborn
Errors of Metabolism, 3 – 6 September
2013, Barcelona.
25. Mehtap Kağnıcı, Yasemin Atik Altınok, Melis Köse, Ebru Canda, Sema Kalkan
Uçar , Sara Habif, Mahmut Çoker : BH4
responsiveness: Ege University experience. ICIEM
2013, 12th International Congress of Inborn Errors of Metabolism, 3 – 6 September 2013, Barcelona
26. Mehtap Kağnıcı, Yasemin Altınok, Ebru Canda,
Melis Köse, Emin Karaca, Sema Kalkan
Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker: Follow-up infants with hypertriglyceridemia. ICIEM 2013, 12th International Congress of
Inborn Errors of Metabolism, 3 – 6
September 2013, Barcelona.
27. Mehtap Kağnıcı, Yasemin Altınok, Ebru
Canda, Melis Köse, Emin Karaca, Sema
Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker Pompe disease in association with
hydrocephalus, a case report. ICIEM 2013, 12th International Congress of Inborn Errors of Metabolism, 3 – 6 September 2013, Barcelona
28. Ayça Aykut, Hüseyin Onay, Melis Kose, Ebru Erbas Canda, Emin Karaca, Mahmut Coker, Ferda Ozkinay:
Two
novel mutations in acid a-glucosidase gene in two patients with Pompe
disease. American Society of Human Genetics 63rd Annual Meeting, October 22–26,
2013 Boston
29. Melis Köse, Mehtap Kağnıcı,
Ebru Canda, Yasemin Altınok, Sema Kalkan Uçar, Sara Habif, Mahmut Çoker. A
patient with HMGCoA Lyase deficiency. 10th MEMG ( Middle East Metabolic Group )
Meeting, 5 – 7 December 2013, İstanbul
30. Melis Köse, Ebru Canda, Mehtap
Kağnıcı, Yasemin Altınok, Sema Kalkan Uçar, Mahmut Çoker. A patient with
congenital lactic acidosis, what could it be? 10th MEMG ( Middle East Metabolic
Group ) Meeting, 5 – 7 December 2013, İstanbul
31. Ebru Canda, Melis Köse,
Mehtap Kağnıcı, Yasemin Altınok, Serap Nur Ergör, Özgün Uygur , Demet Terek, Deniz
Gönülal, Özge Altun Köroğlu, Şebnem Çalkavur , Sema Kalkan Uçar , Mehmet Yalaz,
Sara Habif , Nilgün Kültürsay, Johannes
Haberle, Mahmut Çoker. Two cases with
citrullinemia type 1 diagnosed during neonatal period. 10th MEMG ( Middle East
Metabolic Group ) Meeting, 5 – 7 December 2013, İstanbul
32. Ebru Canda, Mehtap Kağnıcı, Melis Köse, Yasemin Altınok, Ayça Aykut,
Sema Kalkan Uçar, Hüseyin Onay, Sara Habif, Ferda Özkınay, Mahmut Çoker. The case of lysinuric
protein intolerance with a novel mutation. 10th MEMG ( Middle East Metabolic
Group ) Meeting, 5 – 7 December 2013, İstanbul
33. Melis
Köse, Ebru Canda, Ayça
Aykut, Mehtap Kağnıcı, Hüseyin Onay, Sema Kalkan Uçar Afig Berdeli, Ferda Özkınay, Mahmut Çoker. Coexıstence
Of Nıemann Pıck Type B And Familial Mediterranean Fever In A Turkısh Patient. ICIEM 2014, 13th International Congress of
Inborn Errors of Metabolism, 2–5
September 2014, Barcelona
34. Melis Köse, Mehtap
Kağnıcı, Ebru Canda, Yasemin Altınok, Serdar Ceylaner, Sema Kalkan Uçar, Mahmut
Çoker HmgCoA Lyase Deficiency: One Disease Three Pictures. ICIEM 2014, 13th International Congress of
Inborn Errors of Metabolism, 2–5
September 2014, Barcelona
35. Mehtap Kağnıcı, Melis Köse, Ebru Canda, Ayça Aykut, Emin Karaca, Sema Kalkan
Uçar, Zulal Ülger, Ertürk Levent, Hüseyin Onay, Eser Sözman Yıldırım, Ruhi
Özyürek, Fatih Ezgü, Ferda Özkınay, Mahmut Çoker. A Turkish patient with Gaucher disease having
infantile portal hypertension: Homozygosity for the double D409H + H255Q
allele. ICIEM 2014, 13th
International Congress of Inborn Errors of Metabolism, 2–5 September 2014, Barcelona
36. Ebru Canda, Melis Köse,Mehtap Kağnıcı, Sara Habif, Sema Kalkan Uçar, Mahmut Çoker.Two Cases With Oxoprolinuria:
5-Oxoprolinase Deficiency? ICIEM 2014, 13th International Congress of
Inborn Errors of Metabolism, 2–5
September 2014, Barcelona
37. Ebru Canda, Melis
Köse, Mehtap Kağnıcı, Sema Kalkan Uçar, Mahmut Çoker. Fucosidosis Case Report:
Rare Cause of Developmental Delay.ICIEM 2014, 13th International Congress of Inborn Errors of
Metabolism, 2–5 September 2014, Barcelona
38. Mehtap Kağnıcı, Ebru Canda, Melis Köse, Sema Kalkan Uçar, Eser Y.
Sözmen, Sara Habif, Mahmut Çoker. The Effect Of Tetrahydrobıopterın On Oxidative Stress In
Hyperphenylalaninemıa ICIEM
2014, 13th International Congress of Inborn Errors of Metabolism, 2–5 September 2014, Barcelona
39. Ebru Canda, Mehtap Kağnıcı, Melis Köse,Yasemin Altınok, Ayça Aykut, Asude Durmaz, Sema Kalkan Uçar, Hüseyin Onay, Sara Habif, Ferda Özkınay, Mahmut Çoker Lysinuric Protein Intolerance: Keep in mind on
hyperammonemia. ICIEM 2014, 13th International Congress of
Inborn Errors of Metabolism, 2–5
September 2014, Barcelona
40. Mehtap Kağnıcı, Ebru Canda, Melis Köse, Ayça Aykut, Emin Karaca,
Asude Durmaz,Sema
Kalkan Uçar, Zülal Ülger, Ertürk Levent, Hüseyin Onay, Eser Y. Sözmen, Ruhi
Özyürek, Ferda Özkınay, Mahmut Çoker. A Review Of Our Patients With Pompe Disease: Four Identified Novel
Mutations. ICIEM 2014, 13th
International Congress of Inborn Errors of Metabolism, 2–5 September 2014, Barcelona
41. Mehtap Kağnıcı, Ebru Canda, Melis Köse, Sema Kalkan Uçar, Afig
Berdeli, Mahmut Çoker. Infantile Nephropathic Cystinosis With Severe
Gastrointestinal Manifestations: A Case Report. ICIEM 2014, 13th International Congress of Inborn Errors of Metabolism,
2–5 September 2014, Barcelona
42. Melis
Köse, Ebru Canda, Miray Karakoyun, Mehtap Kağnıcı, Havva Yazıcı, Yasemin
Atik Altınok, Sema Kalkan Uçar, Funda Özgenç, Sema Aydoğdu, Hüseyin Onay, Sara
Habif, Mahmut Çoker.
The
Struggle of Two Sisters With Metylmalonıc Aciduria: Before And After Liver
Transplantation. ICIEM 2015,
14th International Congress of Inborn Errors of Metabolism, 1–4 September 2015, Lyon
43. Melis
Köse, Ebru Canda, Yasemin Atik Altınok, Sema Kalkan Uçar, Sara
Habif, Mahmut Çoker. Nutrition and Growth In Branched-Chain Aminoacidopathy
Patients. ICIEM 2015, 14th
International Congress of Inborn Errors of Metabolism, 1–4 September 2015, Lyon
44. Melis
Köse, Ebru Canda, Mehtap Kağnıcı, Şule Gökçe Bozkurt, Ertürk
Levent, Sema Kalkan Uçar, Serdar Ceylaner, Ruhi Özyürek, Mahmut Çoker.A Case with Kerns Sayre
Syndrome and Definition of an Atypical Mutation. ICIEM 2015, 14th International Congress of Inborn Errors of
Metabolism, 1–4 September 2015,
Lyon
45. Melis
Köse, Ebru Canda, Mehtap Kağnıcı , Sema Kalkan
Uçar, Mahmut Çoker. OurPatients
with Congenital Disorders of Glycosylation.ICIEM 2015, 14th International Congress of Inborn Errors of
Metabolism, 1–4 September 2015,
Lyon
46. Sema Kalkan Uçar, Melis Köse, Yasemin Atik Altınok, Ebru Canda, Mehtap
Kağnıcı, Muhterem Duyu, Caner Kabasakal, Sara Habif, Mahmut Çoker. A Patient With MSUD:
Attack Management With Sodium Phenylbutirate And Hemodialysis.ICIEM 2015, 14th International Congress of
Inborn Errors of Metabolism, 1–4
September 2015, Lyon
47. Sema Kalkan Uçar, Melis Köse, Ebru Canda, Mehtap Kağnıcı, Serdar
Ceylaner, Mahmut Çoker. A Case With SURF-1 Mutation And Hypertrophic Olivary Nuclear Degeneration.ICIEM
2015, 14th International Congress of Inborn Errors of Metabolism, 1–4 September 2015, Lyon
48. Mahmut Çoker, Melis Köse, Ebru Canda, Mehtap Kağnıcı, Desiree
Smith, Marisa Mendes, Sema Kalkan Uçar, Gaija Salomons5,10-Methylenetetrahydrofolate
Reductase Deficiency with Different
Pictures. ICIEM 2015, 14th International Congress of Inborn Errors of
Metabolism, 1–4 September 2015,
Lyon
49. Mahmut Çoker, Melis Köse, Ebru Canda, Mehtap Kağnıcı, Yasemin
Atik Altınok Sema Kalkan Uçar, Sara Habif, Hüseyin Onay. Branched-Chaın
Amınoacıdopathy:
Our Experience in Ege University Faculty of Medicine. ICIEM 2015, 14t International Congress of
Inborn Errors of Metabolism, 1–4
September 2015, Lyon
50. Ebru Canda, Melis Köse, Ayfer Arduç Akçay, Sema Kalkan Uçar, Bülent Karapınar,
Mahmut Çoker. Two Patients with Tyrosinemia Type 1 and Neurogenic Crisis. ICIEM
2015, 14t International Congress of Inborn Errors of Metabolism, 1–4 September 2015, Lyon
51. Ebru Canda, Melis Köse, Mehtap Kağnıcı, Havva Yazıcı, Caner Kabasakal, Sara
Habif, Sema Kalkan Uçar, Mahmut Çoker. SCOT Deficiency: Effectiveness of Periton Dialysis During Attack. ICIEM 2015,
14t International Congress of Inborn Errors of Metabolism, 1–4 September 2015, Lyon
52. Ebru Canda, Melis Köse, Mehtap Kağnıcı, Miray Karakoyun, İsmail Kurt, Serap
Aksoylar, Sema Kalkan Uçar, Yeşim Aydınok, Savaş Kansoy, Mahmut Çoker. Accute Intermittant
Porphiria and Congenital Eritropoetic Porphiria Cases: Our Experience in
Ege University Faculty of Medicine. ICIEM
2015, 14t International Congress of Inborn Errors of Metabolism, 1–4 September 2015, Lyon
53. Sema Kalkan Uçar, Ebru Canda, Melis Köse, Mehtap Kağnıcı, Serap
Aksoylar, Ömer kitiş, Ayşe Tosun, Savaş Kansoy, Mahmut Çoker. Hematopoetic Stem
Cell Transplantation Cases With X linked
Adrenoleukodystrophy and Metachromatic Leukodystrophy. ICIEM 2015, 14t International
Congress of Inborn Errors of Metabolism, 1–4 September 2015, Lyon
54. Mahmut Çoker, Ebru Canda, Mehtap Kağnıcı, Melis Köse, Ayşe Tosun, Sema Kalkan
Uçar. Our Patients With Neuronal Ceroid Lipofuscinoses. ICIEM 2015, 14t International
Congress of Inborn Errors of Metabolism, 1–4 September 2015, Lyon
55. Melis Köse, Mehtap Kağnıcı, Ebru Canda, Cenk Eraslan, Gülden Diniz, Gülçin
Akıncı, Aycan Ünalp, Ünsal Yılmaz, Serdar Ceylaner, Sema Kalkan Uçar, Rob
Taylor, Mahmut Çoker. Clinical, molecular, radiological investigations in
patients withSURF1mutations and
muscle biopsy findings. ICIEM
2016, 15th International Congress of Inborn Errors of Metabolism, 6-9 September 2016, Rome
56. Melis Köse, Mehtap Kağnıcı, Cahit Barış Erdur, Gülin Erdemir, Miray Karakoyun, Emel
Berksoy, Özlem Bağ, Serdar Ceylaner, Ferah Genel. Clinical and Molecular
Investigations in Five Turkish Patients withCitrinDeficiencyand
Identification of a Novel Mutation onSLC25A13. ICIEM 2016, 15th International Congress of
Inborn Errors of Metabolism, 6-9
September 2016, Rome
57. Ebru Canda, Melis Köse, Mehtap Kağnıcı, Meral Dondurmacı, Sema Kalkan Uçar,
Eser Sözmen, Ertürk Levent, Mahmut Çoker. Evaluation of Cardiac and Vascular
Involvement in Patients with Mucopolysaccharidosis. ICIEM 2017, 16th
International Congress of Inborn Errors of Metabolism, 5-8 September 2016, Rio de Janerio
Oral Presantations:
1. Melis Köse, Mehtap Kağnıcı, Ebru Canda,Sema
Kalkan Uçar, Mahmut Çoker.Is it possible to evaluate dopaminergic activity in
gaucher disease by measuring
prolactin concentration?III.Turkish National Lysosomal Sorage Disorders Congress 2012
,Cyprus
2.
Melis Köse, Ebru Canda, Mehtap
Kağnıcı, Yasemin Atik Altınok, Sema Kalkan Uçar, Sara Habif, Hüseyin Oany,
Mahmut Çoker. Branched Chain Aminoacidopathies: Ege University Experience. XIII.
Turkish National Metabolism Congress 2015, Adana, Turkey
3.
Melis Köse, Mehtap Kağnıcı, Ebru Canda, Cenk Eraslan, Gülden Diniz, Gülçin
Akıncı, Aycan Ünalp, Ünsal Yılmaz, Serdar Ceylaner, Sema Kalkan Uçar, Rob
Taylor, Mahmut Çoker. Clinical, molecular, radiological investigations in
patients withSURF1mutations and
muscle biopsy findings. XV. Turkish National Metabolism Congress 2017, Antalya,
Turkey
4.
Melis Köse, Gülçin Akıncı, Aycan
Ünalp, Cenk Eraslan, Eser Sözmen Yıldırım, Mahmut Çoker. A new case of Saposin A Deficiency with a novel mutation.
XV. Turkish National Metabolism Congress 2017, Antalya, Turkey
5. Melis Demir Köse, Hüseyin Onay, Tuba Hilkay Karapinar, Yeşim Oymak,
Eser Sözmen Yildirim, Ferda Özkınay. Hematological and Molecular Genetic
Results of Gaucher Disease Patients and definition of a novel mutation. III.
Ege University Hematology& Genetic Symposium 2018, Izmir, Turkey
6.
Melis Köse, Seçil
Akyıldız Demir, Gülçin Akıncı, Cenk Eraslan, Ünsal Yılmaz, Serdar Ceylaner, Eser Sözmen Yıldırım, Volkan Seyrantepe. Second case
of Saposin A Deficiency and Altered
Autophagy. VI. Lysosomal
Disorders Congress with International Participation 2018,Antalya,Turkey
Courses:
1. European focus course on Congenital
Disorders of Glycosylation – CDG, 26-28 June 2013, Nijmegen, The Netherlands
2. European focus Course on
Neurotransmitter Deficiencies , 8-10 November 2015, Venice, Italy
Publications:
1. Melis Köse ,
Özlem Bağ, Barış Güven, Timur Meşe, Aysel Öztürk, Vedide Tavlı. P-wave dispersion: an indicator of cardiac autonomic dysfunction in
children with neurocardiogenic syncope.Pediatr Cardiol. 2014
April;35(4):596-600. doi: 10.1007
2.
Ayça Aykut A, Hüseyin Onay H,Melis Köse, Ebru Canda, Emin Karaca, Mahmut Coker, Ferda Ozkınay.Two novel mutations in
acid α-glucosidase gene in two patients with Pompe disease. J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1265-7. doi:
10.1515
- Sema
Kalkan Uçar, Ebru Canda, Melis
Köse, Mehtap Kağınıcı, Özge Altun Köroğlu, Şebnem Çalkavur, Sara
Habif, Mahmut Çoker. Presentation and management of classical
urea cycle disorders: lessons from our experience. Behcet Uz Cocuk Hast Derg. 2016; 6(2): 89-96
| DOI:10.5222/buchd.2016.089
- Sema
Kalkan Uçar, Burcu Özbaran, Yasemin
Atik Altinok, Melis Köse, Ebru Canda,
Mehtap Kagnici, Mahmut Çoker.
One Year Experience of Pheburane® (Sodium Phenylbutyrate) Treatment in a
Patient with Argininosuccinate Lyase Deficiency. JIMD Rep. 2015
Feb 10. [Epub ahead of print]
- Melis Demir Köse, Ebru Canda,
Mehtap Kağnıcı, Yasemin Atik Altınok, Sema Kalkan Uçar, Sara Habif,
Hüseyin Onay, Mahmut Coker. Branched chain organic organic acidurias:
Experience of Ege University Medical Faculty. J Pediatr Res 2016; 3: 76-81
- Melis Demir Köse, Ebru Canda,
Mehtap Kağnıcı, Rana İşgüder, Aycan
Ünalp, Sema Kalkan Uçar, Luzy Bahr, Corinne Britschgi, Jörn Oliver Sass,
Mahmut Coker. Two Siblings with
Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures. J
Pediatr Res 2016; 3: 113-116
- Ebru Canda, Melis Demir Köse, Mehtap Kağnıcı,
Sema Kalkan Uçar, Eser Sözmen Yıldırım, Mahmut Coker. Patients with
Gaucher type 1: Switching from imiglucerase to miglustat therapy. Blood
Cells Mol Dis. 2018
Feb;68:180-184
- Melis Köse, Ebru Canda, Mehtap
Kağnıcı, Sema Kalkan Uçar, Mahmut Coker.A Patient with MSUD: Acute Management with Sodium
Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate. Case Rep
Pediatr. 2017;2017:1045031.
- Melis Köse, Mahmut Çoker.Primary Neurotransmitter
Disorders. Journal of Tepecik Training
and Research Hospital 2017; 27(3):169-178
- Kayikcioglu
M, Tokgozoglu L, Yilmaz M, Kaynar L, Aktan M, Durmuş RB, Gokce C, Temizhan
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