SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review
Journal of Pediatric Endocrinology and Metabolism
, cilt.37, sa.6, ss.571-574, 2024 (SCI-Expanded)
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Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.37, sa.5, ss.413-418, 2024 (SCI-Expanded)
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Intestinal microbiota composition of children with glycogen storage Type I patients
EUROPEAN JOURNAL OF CLINICAL NUTRITION
, cilt.78, sa.5, ss.407-412, 2024 (SCI-Expanded)
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Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia
Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy
Journal of Pediatric Endocrinology and Metabolism
, sa.7, ss.650-658, 2023 (SCI-Expanded)
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Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease
International Archives of Allergy and Immunology
, cilt.184, sa.4, ss.370-375, 2023 (SCI-Expanded)
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A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation
Joint Bone Spine
, cilt.90, sa.1, 2023 (SCI-Expanded)
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- Citations
- Citation Indexes: 6
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- Readers: 7
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- News Mentions: 2
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Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB
Assessment of auditory functions in patients with hepatic glycogen storage diseases
Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.35, sa.4, ss.451-462, 2022 (SCI-Expanded)
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First successful concomitant therapy of immune tolerance induction therapy and desensitization in a CRIM-negative infantile Pompe patient
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
, cilt.35, sa.2, ss.273-277, 2022 (SCI-Expanded)
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The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis
JOURNAL OF PARENTERAL AND ENTERAL NUTRITION
, cilt.45, sa.8, ss.1788-1792, 2021 (SCI-Expanded)
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Tralesinidase alfa (AX 250) Enzyme Replacement Therapy for Sanfilippo Syndrome Type
ANNALS OF NEUROLOGY
, cilt.90, 2021 (SCI-Expanded)
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Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.185, sa.9, ss.2739-2747, 2021 (SCI-Expanded)
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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)
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Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS
, cilt.1861, sa.11, ss.1623-1633, 2016 (SCI-Expanded)
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GENOTYPIC FEATURES OF 41 PATIENTS WITH GAUCHER DISEASE FROM TURKEY
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.35, 2012 (SCI-Expanded)
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AN ADULT PATIENT WITH LATE DIAGNOSED LYSINURIC PROTEIN INTOLERANCE
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.34, 2011 (SCI-Expanded)
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A NOVEL MUTATION IN A TURKISH PATIENT WITH THE INFANTILE FORM OF TAY-SACHS DISEASE
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.34, 2011 (SCI-Expanded)
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TWO NOVEL MUTATIONS IN TURKISH PATIENTS WITH SJVGREN LARSSON SYNDROME
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.34, 2011 (SCI-Expanded)
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NOVEL DELETION IN HYPOTONIA-CYSTINURIA SYNDROME
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.34, 2011 (SCI-Expanded)
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HARDEROPORPHYRIA PHENOTYPE DUE TO A HOMOZYGOUS H237R MISSENSE MUTATION
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.33, 2010 (SCI-Expanded)
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The same novel mutation determined in 2 Hurler-Scheie patients who are the children of different families
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.31, ss.112, 2008 (SCI-Expanded)
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Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.31, ss.33, 2008 (SCI-Expanded)
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Crisponi syndrome due to a novel mutation on the cytokine receptor-like factor I (CRLFI) gene
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.31, ss.153, 2008 (SCI-Expanded)
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The impact of inherited metabolic diseases on quality of life: A pilot study
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.31, ss.147, 2008 (SCI-Expanded)
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The first results of 18 months experience with lysosomal storage disease
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.30, ss.95, 2007 (SCI-Expanded)
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3-Methylcrotonylglycinuria in a family: Late and different clinical presentation
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.30, ss.40, 2007 (SCI-Expanded)
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Multisystem involvement: A rare and unusual presentation of GSD type IV
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.30, ss.60, 2007 (SCI-Expanded)
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The effects of laronidase treatment in a patient with Hurler syndrome: Results of one year therapy
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.29, ss.149, 2006 (SCI-Expanded)
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Incidence of osteoporosis in a metabolic unit
JOURNAL OF INHERITED METABOLIC DISEASE
, cilt.29, ss.159, 2006 (SCI-Expanded)
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Diğer Dergilerde Yayınlanan Makaleler
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)
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)
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Enzim Replasman Tedavisi
Türkiye Klinikleri Pediatri Dergisi
, cilt.1, ss.16-23, 2021 (Scopus)
Karbonmonoksit Zehirlenmesinde Hiperbarik Oksijen Tedavisi İki Olgu Sunumu
TÜRKİYE KLİNİKLERİ J PEDİATR
, cilt.14, ss.220-222, 2005 (Hakemli Dergi)
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar
Lizozomal Depo Hastalıklarında Tiyol/Disülfit ve İskemi Modifiye Albümin Durumunun Değerlendirilmesi
XVII. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi, Antalya, Türkiye, 28 Nisan 2024
Rapidly progressive late onset X linked Adrenoleukodystrophy with a novel mutation
Endobridge 2024, Antalya, Türkiye, 17 - 20 Ekim 2024, ss.1-2
3-O Metil Dopa ölçümü ile AADC eksikliği taraması
KBUD Kongre, Lab EXPO 2022, Antalya, Türkiye, 03 Ekim 2022
Lysosphingolipids in the screening of sphingolipidoses
360 LYSOSOME_FEBS Advanced Lecture Course_2022, İzmir, Türkiye, 04 Ekim 2022
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
Is The Gut Microbiota Affected By The Special Diet Treatments of Inherited Metabolic Diseases?
SSIEM Annual Symposium 2022, Freiburg, Almanya, 30 Ağustos - 02 Eylül 2022, ss.172-173
A Different Approach to the Treatment of Type III Multiple Acyl CoA Dehyrogenase Deficiency: Modified Corn Starch
SSIEM 2022-, Freiburg, Almanya, 30 Ağustos - 02 Eylül 2022, ss.200
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NEW PERSPECTIVES FOR THE TREATMENT and FOLLOW UP OF GYCOGEN STORAGE DISEASE TYPE V: DL-3-HYDROXYBUTYRIC ACID WITH MODIFIED ATKINS DIET and QUADRICEPS FEMORIS SHEAR WAVE ELASTOGRAPHY
SSIEM Annual Symposium 2022, Freiburg, Almanya, 30 Ağustos - 02 Eylül 2022, ss.338
Sık düşünülen ancak nadir saptanan hastalığın yeni saptanmış bir mutasyonu: Transaldolaz (TALDO) Eksikliği
XVI. Uluslararası Katılımlı Metabolik Hastalıklar ve Beslenme Kongresi , Hatay, Türkiye, 28 Mayıs - 02 Haziran 2022, ss.354
Pompe Hastalarında Enzim Replasman Tedavisine Bağlı Anafilaksi ve Yönetimi:Tek Merkez Deneyim
XXVIII. Ulusal Alerji ve Klinik İmmünoloji kongresi, Türkiye, 13 - 17 Ekim 2021
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
Diyet tedavisine cevap veren HMG-CoA liyaz enzim eksikliği olan iki olgu
Hacettepe Beslenme ve Diyetetik Günleri IV. Mezuniyet Sonrası Eğitim Kursu, Ankara, Türkiye, 27 - 29 Haziran 2019
Could Targeted Next Generation Sequencing Be A First Line Diagnostic Method for Lysosomal Storage Disease?
International Inborn Errors of Metabolism and Nutrition Congress, 10 - 14 Nisan 2019
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
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
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
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
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
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
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
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
UNIQUE CLINICAL AND MOLECULAR FINDINGS IN LARGE COHORT OF PATIENTS WITH GAUCHER DISEASE FROM TURKEY
Gaucher Symphosium, İstanbul, Türkiye, 21 - 22 Ekim 2018
Determination of succinylacetone in dried blood spot: preliminary results of our laboratory
SSIEM, 4 - 07 Eylül 2018
An early diagnosis cerebretendinous xanthomatosis in a patient at the age of 15 years
SSIEM, 4 - 07 Eylül 2018
The clinical evaluation of Fabry patientswith Mainz severity score index and DS3 score
SSIEM, 4 - 07 Eylül 2018
Glycogen storage disease type 9: Insidious onset,mild form
SSIEM, 4 - 07 Eylül 2018
Short Chain Fatty Acid OxidationDefect in an Adult Patient With RefractorySeizures
ICIEM, 5 - 08 Eylül 2017
Carnitine Acyl Carnitine TranslocaseDeficiency With Severe Hyperammonemiaand Hypoglycemia
ICIEM, 5 - 08 Eylül 2017
Preliminary Results of Our Laboratoryfor Bile Acid Metabolism Disorders
ICIEM, 5 - 08 Eylül 2017
Renal Involvement in Fabry Disease
ICIEM, 5 - 08 Eylül 2017
Renal İnvolvement in Fabry Disease
13.International Congress of Inborn Errors of Metabolism., Rio de Janeiro, Brezilya, 5 - 08 Eylül 2017
Karbonhidrat Metabolizması Bozuklukları
Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Güncelleme Toplantısı, Türkiye, 1 - 04 Haziran 2017
Tirozinemi İzlem ve Tedavi
Çocuk Gastroenteroloji, Hepatoloji ve Beslenme Güncelleme Toplantısı, Türkiye, 1 - 04 Haziran 2017
Ciddi hiperammonemi ve hipoglisemi ile giden karnitin-açil translokaz olgusu
14. Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Muğla, Türkiye, 26 - 30 Nisan 2017
Lizozomal Depo Hastalıklarında Nörolojik Bulgular ve Tedavileri
14.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Türkiye, 26 - 30 Nisan 2017
Mukopoli̇sakkari̇dozlar: Tanı ve Tedavi̇de Güncel YaklaşImları
39. Pediatri Günleri ve 18. Pediatri Hemşireliği Günleri, Türkiye, 2 - 05 Nisan 2017
Yenidoğanda Tarama Testleri
İlk 1000 gün 5. Kongresi, Türkiye, 19 - 22 Mart 2017
Evaluation of chitotriosidase and high sensitive c reactive protein levels in mucopolysaccharidosis
13th Middle East Metabolic Group Meeting/ Amman-Jordan, 28 - 30 Ekim 2016
ÇOCUKLARDA VİTAMİN VE MİNERAL DESTEĞİ
60. Türkiye Milli Pediatri Kongresi, Antalya, Türkiye, 9 - 13 Kasım 2016
Do cytokine levels play a role in the pathogenesis of mucopolysaccharidosis patients
13th Middle East Metabolic Group Meeting/Amman -Jordan, 28 - 30 Ekim 2016
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
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
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
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
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
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
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
BonemineradensityandvitaminDstatusininbornerrorsofmetabolism
SSIEM 2016: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Rome, Italy, 6 - 09 Eylül 2016
LAL enzim eksikliği
11. Ulusal Çocuk Gastroenteroloji Hepatoloji ve Beslenme Kongresi, Türkiye, 4 - 07 Mayıs 2016
Mukopolisakkaridozlu Çocuklarda Çok Boyutlu Değerlendirme
V. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, 14 - 17 Nisan 2016
Fabry Hastalarında Subklinik Sol Ventrikül Disfonksiyonunun Speckle Tracking Ekokardiyografi ile Değerlendirilmesi
V. Uluslararası Katılımlı Lizozomal Hastalıklar Kongresi, Türkiye, 14 - 17 Nisan 2016
Is there any effect of acylcarnitines on proinflammatory process in obese children
SSIEM, 1 - 04 Eylül 2015
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
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
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
Sol çenede Lenfatik tutlum ile giden Niemann Pick tip C olgusu
XIII.Ulusal Metabolik Hastalıklar ve Beslenme Kongresi, Adana, Türkiye, 14 - 18 Nisan 2015
Lizozomal depo hastalıklarına yaklaşım
2. Marmara Pediatri Kongresi, Türkiye, 12 - 14 Şubat 2015
Three siblings with ext1 CDG
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, İsviçre, 30 Ağustos - 02 Eylül 2011
Gazi Üniversitesi Tıp Fakültesi Sağlam Çocuk Polikliniğinde izlenen 4 6 aylık bebeklerde demir eksikliği anemisinin sıklığı
Pediatri Günleri-II, Kırıkkale, Türkiye, 11 Mayıs 2004
Kitap & Kitap Bölümleri
Tirozin Metabolizması Bozuklukları
TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.1144-1148, 2020
Keton Cisim Yapım ve Yıkım Bozuklukları
TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.1132-1135, 2020
Fruktoz Metabolizması Bozuklukları
TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.1122-1123, 2020
Metionin Metabolizması Bozuklukları
TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.1156-1158, 2020
Vitaminler
TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.30-44, 2020
Glikojen Depo Hastalıkları
TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.1107-1111, 2020
Mitokondriyal Hastalıklar
TEMEL PEDİATRİ, HASANOĞLU ENVER, DÜŞÜNSEL RUHAN, BİDECİ AYSUN, BODUROĞLU KORAY, Editör, GÜNEŞ TIP KİTABEVLERİ, Ankara, ss.1136-1139, 2020
Pediatrik Hastalıklara Özel Beslenme ve Diyet Yönetimi
Akademisyen Yayınevi Kitabevi, Ankara, 2019
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Dı̇kkat Eksı̇klı̇ğı̇ Ve Hı̇peraktı̇vı̇te Bozukluğunda Nörometabolı̇k Değerlendı̇rme
Dı̇kkat Eksı̇klı̇ğı̇ Ve Hı̇peraktı̇vı̇te Bozukluğu, Şebnem Soysal, Editör, Nobel, ss.483-488, 2019
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
Peroksizomal Bozukluklar
Yurdakök Pediatri, Murat Yurdakök, Editör, Güneş Tıp Kitapevleri, Ankara, ss.1813-1820, 2017