Ayşe YÜKSEL YANBOLU
Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı
Araştırma alanları: Tıp, Dahili Tıp Bilimleri, Sağlık Bilimleri, Tıbbi Genetik
Yayınlar
- Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia (2026)
- Severe Hypercholesterolemia in a Pediatric Cohort: Familial Homozygous and Autosomal Recessive Hypercholesterolemia (2026)
- Cardiac involvement as a gateway to the diagnosis of inherited metabolic disorders: A 16-year pediatric experience from a tertiary metabolic center (2025)
- EVALUATION OF EXPERIENCED CLINICAL EVENTS IN POMPE DISEASE BASED ON REAL-LIFE DATA. (2025)
- Genotype–Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study (2025)
- A retrospective study on neuropsychiatric presentations of mucopolysaccharidoses (2025)
- Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease (2024)
- HIBCH MUTATIONS AS A PART FROM DIFFERENTIAL DIAGNOSIS OF LEIGH-LIKE SYNDROME (2022)
- HETEROZİGOT FAMİLYAL HİPERKOLESTEROLEMİ EGE TIP DENEYİMİ (2022)
- Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl (2022)