Makaleler
102
Tümü (102)
SCI-E, SSCI, AHCI (81)
SCI-E, SSCI, AHCI, ESCI (89)
ESCI (8)
Scopus (86)
TRDizin (15)
Diğer Yayınlar (6)
27. MİTOKONDRİYAL HASTALIK NEDENİYLE TETKİK EDİLEN HASTALARDA M.16189T>C DEĞİŞİKLİĞİNİN METABOLİK SENDROM AÇISINDAN İNCELENMESİ
Kocatepe Tıp Dergisi
, cilt.23, sa.3, ss.322-325, 2022 (Hakemli Dergi)
36. PROPIONYLCARNITINE AND FREE CARNITINE ARE NEW BIOMARKERS IN THE FOLLOW-UP PERIOD OF MUCOPOLYSACCARIDOSIS TO SCREEN OXIDATIVE STRESS
Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi
, cilt.28, sa.4, ss.565-571, 2021 (Hakemli Dergi)
51. Vitamin D Levels and Bone Mineral Density in Inborn Errors of Metabolism Requiring Specialised Diets
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
, cilt.29, sa.12, ss.1207-1211, 2019 (SCI-Expanded)
59. A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.
Turkish journal of haematology : official journal of Turkish Society of Haematology
, cilt.34, sa.4, ss.376-377, 2017 (SCI-Expanded, Scopus, TRDizin)
73. Dislipidemilerde Beslenme Özellikleri
Türkiye Klinikleri Pediatrik Bilimler Dergisi
, cilt.10, sa.3, ss.34-43, 2014 (Hakemli Dergi)
74. Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.26, sa.11-12, ss.1149-1152, 2013 (SCI-Expanded, Scopus)
76. Sleep study characteristics in patients with mucopolysaccharidosis
EUROPEAN RESPIRATORY JOURNAL
, cilt.42, 2013 (SCI-Expanded, Scopus)
84. Çocuklarda Hiperlipidemi Taraması
Türkiye Klinikleri Pediatri Dergisi
, cilt.22, sa.4, ss.171-177, 2013 (Hakemli Dergi)
86. Alfa Mannosidoz
Lizozomal Depo Hastalıkları Dergisi
, cilt.4, sa.1, ss.32-34, 2012 (Hakemli Dergi)
88. L carnitine L propionyl carnitine and malondialdehyde levels of pediatric patients with solid tumor
JOURNAL OF PEDİATRİC SCİENCES
, cilt.4, sa.3, 2012 (Hakemli Dergi)
91. A rare case of severe lactic acidosis in a preterm infant: lack of thiamine during total parenteral nutrition
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.24, sa.9-10, ss.843-845, 2011 (SCI-Expanded, Scopus)
96. Mukopolisakkaridoz Tip VI Tanılı Olgularda Enzim Replasman Tedavi Sonuçlarının Değerlendirilmesi Gazi Üniversitesi Deneyimi
Lizozomal Depo Hastalıkları Dergisi
, cilt.3, sa.1, ss.1-3, 2011 (Hakemli Dergi)
97. An Interesting Case of Fabry Disease Presented with Unexplained Abdomen Pain
Lizozomal Depo Hastalıkları Dergisi
, cilt.3, sa.1, ss.21-24, 2011 (Hakemli Dergi)
Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler
97
1. Mukopolisakkaridoz Tanılı Hastaların ve Bakım Verenlerinin Yaşam Kalitesi ve İlgili Faktörler
XVII. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Antalya, Türkiye, 28 Nisan - 02 Mayıs 2024, (Özet Bildiri)
12. 3-O Metil Dopa ölçümü ile AADC eksikliği taraması
KBUD Kongre, Lab EXPO 2022, Antalya, Türkiye, 03 Ekim 2022, (Özet Bildiri)
13. Lysosphingolipids in the screening of sphingolipidoses
360 LYSOSOME_FEBS Advanced Lecture Course_2022, İzmir, Türkiye, 04 Ekim 2022, (Özet Bildiri)
15. A Different Approach For The Treatment Of Gastrointestinal Involvement In A Patient With Early Onset Lysosomal Acid Lipase Deficiency
SSIEM Annual Symposium 2022, Freiburg, Almanya, 30 Ağustos 2022, (Özet Bildiri)
22. Pompe Hastalarında Enzim Replasman Tedavisine Bağlı Anafilaksi ve Yönetimi:Tek Merkez Deneyim
XXVIII. Ulusal Alerji ve Klinik İmmünoloji kongresi, Türkiye, 13 - 17 Ekim 2021, (Özet Bildiri)
23. Asemptomatik Transaminaz Yüksekliğinden Son Dönem Karaciğer Hasarına: Kalıtsal Safra Asit Sentez Bozuklukları
13. Ulusal Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Kongresi (Dijital Kongre), Türkiye, 19 Mayıs 2021, (Özet Bildiri)
28. Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa
SSIEM 2019, 3-6th September, 2019, Rotterdam-The Netherlands, 3 - 06 Eylül 2019, (Özet Bildiri)
29. Screening of Twelve Lysosomal Storage Diseases with LC-MS/MS in Gazi University Hospital: The First Results of Validation.
INTERNATIONAL INBORN ERRORS OFMETABOLISM AND NUTRITION CONGRESS10 - 14 April 2019 Istanbul-Turkey, 10 - 14 Nisan 2019
30. Cornelia de Lange Syndrome and Glycogen Storage Disease Together in a Patient
Internatıonal Inborn Errors Of Metabolısm And Nutrıtıon Congress, İstanbul, Türkiye, 10 - 14 Nisan 2019, (Özet Bildiri)
31. A Very Rare Disease: Hyperornithinemia-Hyperammonemia-Homocitrullinuria (Hhh) Syndrome
Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 Nisan 2019, (Özet Bildiri)
32. Familial Hyperphosphatemic Tumoral Calcinosis in an Unusual Site
Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 Nisan 2019, (Özet Bildiri)
33. Hyperinsulinemic Hypoglycemia: Think of GLUD1 Gene Mutation Leading To Hyperinsulinism/Hyperammonemia (HI/HA) Syndrome
Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 Nisan 2019, (Özet Bildiri)
34. Novel Mutation in FBP1 Gene Presenting with Recurrent Episodes of Vomiting in A Child
Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 Nisan 2019, (Özet Bildiri)
35. Novel Mutation in Two Siblings with Normouricemic Lesch Nyhan Syndrome
Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 Nisan 2019, (Özet Bildiri)
36. A Novel Rars2 Mutation in Two Siblings with Microcephaly, Seizures and Liver Involvement
Internatıonal Inborn Errors Of Metabolism And Nutrıtıon Congress 10 - 14 April 2019, Istanbul-Turkey, 10 - 14 Nisan 2019, (Özet Bildiri)
39. RAR2mutation in two siblingswith microcephaly,seizures and liver involvement
15 th MEMG, Beyrut, Lübnan, 29 Kasım - 02 Aralık 2018, (Özet Bildiri)
40. Respiratory system involvement of 41 Mucopolysaccaridosis patients with the evaluation of KL-6, SPA and SPD levels
15 th MEMG, Beyrut, 29 Kasım - 02 Aralık 2018, (Tam Metin Bildiri)
41. UNIQUE CLINICAL AND MOLECULAR FINDINGS IN LARGE COHORT OF PATIENTS WITH GAUCHER DISEASE FROM TURKEY
Gaucher Symphosium, İstanbul, Türkiye, 21 - 22 Ekim 2018, (Tam Metin Bildiri)
42. An early diagnosis cerebretendinous xanthomatosis in a patient at the age of 15 years
SSIEM, 4 - 07 Eylül 2018
43. Determination of succinylacetone in dried blood spot: preliminary results of our laboratory
SSIEM, 4 - 07 Eylül 2018, (Özet Bildiri)
44. Glycogen storage disease type 9: Insidious onset,mild form
SSIEM, 4 - 07 Eylül 2018
46. The clinical evaluation of Fabry patientswith Mainz severity score index and DS3 score
SSIEM, 4 - 07 Eylül 2018
47. RENAL INVOLMENT IN FABRY DİSEASE
14 th middle east metabolic group (MEMG) meeting Athens GREECE, Atina, Yunanistan, 9 - 11 Şubat 2018, (Özet Bildiri)
48. Screening ALPL Gene Differences byNext Generation Sequence Techonology inPatients Having Low ALP Levels
ICIEM, 5 - 08 Eylül 2017, (Özet Bildiri)
50. Renal Involvement in Fabry Disease
ICIEM, 5 - 08 Eylül 2017, (Özet Bildiri)
51. Preliminary Results of Our Laboratoryfor Bile Acid Metabolism Disorders
ICIEM, 5 - 08 Eylül 2017, (Özet Bildiri)
52. Short Chain Fatty Acid OxidationDefect in an Adult Patient With RefractorySeizures
ICIEM, 5 - 08 Eylül 2017, (Özet Bildiri)
53. Carnitine Acyl Carnitine TranslocaseDeficiency With Severe Hyperammonemiaand Hypoglycemia
ICIEM, 5 - 08 Eylül 2017, (Özet Bildiri)
54. Niemann Pick type C diagnostic methods and survey: National Intervention-Free INSPECT registration study protocolpresentation
ICIEM 2017 13th International Congress of Inborn Errors of Metabolism, Brezilya, 5 - 08 Eylül 2017, (Özet Bildiri)
56. Ciddi hiperammonemi ve hipoglisemi ile giden karnitin-açil translokaz olgusu
14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017, (Özet Bildiri)
59. Evaluation of chitotriosidase and high sensitive c reactive protein levels in mucopolysaccharidosis
13th Middle East Metabolic Group Meeting/ Amman-Jordan, 28 - 30 Ekim 2016, (Özet Bildiri)
61. Do cytokine levels play a role in the pathogenesis of mucopolysaccharidosis patients
13th Middle East Metabolic Group Meeting/Amman -Jordan, 28 - 30 Ekim 2016, (Tam Metin Bildiri)
63. Evaluation of chitotriosidase and high sensitive c reactive protein levels in mucopolysaccarıdosıs
13th MEMG Meeting, 28 ekim-30kasım 2016, Amman, Jordan, 28 - 30 Ekim 2016
66. The specificity and sensitivity of next generation semiconductor DNA sequencing in detecting heteroplasmic mitochondrial
MEMG, 28 - 30 Ekim 2016, (Özet Bildiri)
67. Evaluation of vitamin D levels in paediatric cancer patients
48th congress of the International Society of Paediatric Oncology (SIOP), Dublin, İrlanda, 19 - 22 Ekim 2016, (Özet Bildiri)
68. Early initiation of investigational enzyme replacement therapy in a 9 month old infant with mucopolysaccharidosis type VII
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 Eylül 2016, (Özet Bildiri)
69. Identification of a novel mutation in Turkish infant with early onset monocarboxylate transporter 1 MCT1 deficiency as a cause of recurrent ketoacidosis
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 Eylül 2016, (Özet Bildiri)
70. Bone mineral density and vitamin D status in inborn errors of metabolism
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 Eylül 2016, (Özet Bildiri)
71. The specificity and sensitivity of next generation semiconductor DNA sequencing in detecting mitochondrial DNA heteroplasmy
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 Eylül 2016, (Özet Bildiri)
73. Do cytokine levels play a role in pathogenesis of mucopolysaccaridosis patients
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 Eylül 2016, (Özet Bildiri)
74. Evaluation of chitotriosidase and high sensitivity c reactive protein levels in mucopolysaccaridosis
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 Eylül 2016, (Özet Bildiri)
75. BonemineradensityandvitaminDstatusininbornerrorsofmetabolism
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 Eylül 2016, (Özet Bildiri)
77. Pediatrik kanser hastalarında D vitamini düzeylerinin değerlendirilmesi
XIX. Ulusal Pediatrik Kanser Kongresi, İzmir, Türkiye, 4 - 08 Mayıs 2016, (Özet Bildiri)
79. Mukopolisakkaridozlu Çocuklarda Çok Boyutlu Değerlendirme
V. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, 14 - 17 Nisan 2016, (Özet Bildiri)
80. Fabry Hastalarında Subklinik Sol Ventrikül Disfonksiyonunun Speckle Tracking Ekokardiyografi ile Değerlendirilmesi
V. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Türkiye, 14 - 17 Nisan 2016, (Özet Bildiri)
82. Is there any effect of acylcarnitines on proinflammatory process in obese children
SSIEM, 1 - 04 Eylül 2015
83. A novel mutation for L 2 hydroxyglutaric aciduria in a 7 year old patient
SSIEM, 1 - 04 Eylül 2015, (Özet Bildiri)
84. Lysinuric protein intolerance An overlooked diagnosis
SSIEM Annual Symposium, 1 - 04 Eylül 2015
85. Patient with Niemann Pick type C presenting with lymphatic in volvement with Niemann Pick cells in the left jaw
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Lyon, Fransa, 1 - 04 Eylül 2015
87. Cobalamin C disease with hypopigmented cutaneousfindings A unique case
annual symposium of the society for the study of inborn errors of metabolism, Lyon, Fransa, 1 - 04 Eylül 2015, cilt.38, ss.319, (Özet Bildiri)
88. Mucopolysaccharidosis Type VII at an Early Age A good candidate for investigational enzyme replacement therapy
SSIEM, 1 - 04 Eylül 2015, (Özet Bildiri)
89. A completely new approach to the diagnosis of inbornerrors development of a 450 gene all metabolic disorders next generation sequencing panel
SSIEM Annual Symposium, 1 - 04 Eylül 2015
90. Sol çenede Lenfatik tutlum ile giden Niemann Pick tip C olgusu
XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Türkiye, 14 - 18 Nisan 2015
95. Apheresis inducible cytokine pattern change in children with homozygous familial hypercholesterolemia
14. International Congress of the world Apheresis society /İstanbul, 13 - 15 Eylül 2012
96. Three siblings with ext1 CDG
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, İsviçre, 30 Ağustos - 02 Eylül 2011
Kitaplar
7
2. Glikojen Depo Hastalıkları ve Bağırsak Mikrobiyotası
Kalıtsal Metabolik Hastalıklarda Beslenme, Doç. Dr. Fatma Tuba Eminoğlu, Prof. Dr. Yusuf Kenan Haspolat, Prof. Dr. Çoşkun Çeltik, Prof. Dr. Kürşat Bora Çarman,Doç. Dr. Ulaş Emre Akbulut, Uzm Dr. Taşkın Taş, Editör, Orient Yayınevi, ss.833-841, 2021
3. Smith Lemni Opitz Sendromu ve Beslenme Tedavisi
Kalıtsal Metabolik Hastalıklarda Beslenme, Doç. Dr. Fatma Tuba Eminoğlu, Prof. Dr. Yusuf Kenan Haspolat, Prof. Dr. Çoşkun Çeltik, Prof. Dr. Kürşat Bora Çarman,Doç. Dr. Ulaş Emre Akbulut, Uzm Dr. Taşkın Taş, Editör, Orient Yayınevi, ss.779-795, 2021
5. Normal Çocuklukta Beslenme ve Beslenme Bozuklukları
Lange - Current Tanı ve Tedavi Pediatri, Prof.Dr. Enver Hasanoğlu Prof.Dr. Aysun Bideci Prof.Dr. Elif N. Özmert Prof.Dr. Sevcan A. BAKKALOĞLU EZGÜ, Editör, ema tıp kitapevi, ss.281-308, 2018
7. Yoğurt ve Laktoz İntoleransı
YoğurtLezzetin ve Sağlığın Öyküsü, Sevinç Yücecan, Editör, Matsis Matbaa, İstanbul, ss.107-1114, 2015