დოდო აგლაძე

პუბლიკაციები

2025 – Evaluation of Cystic Fibrosis Newborn Screening and Follow-Up Process in Georgia (2022–2023)
2024 – Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial
2024 – Preliminary results from the ongoing aphenity extension study: Sepiapterin reduces blood PHE with improved dietary PHE tolerance in participants with phenylketonuria
2024 – Cystic fibrosis screening challenges in Georgia
2023 – PHASE 3 APHENITY LONG-TERM STUDY DESIGN: SEPIAPTERIN FOR TREATMENT OF PHENYLKETONURIA
2023 – CFTR mutation spectrum in Georgian CF patients European Journal of Human Genetics
2022 – SMN1 and SMN2 status in Georgian SMA patients European Journal of Human Genetics (2023)
2021 -P07.012.D MEFV gene mutation frequency in Georgian FMF patients EUROPEAN JOURNAL OF HUMAN GENETICS.
2020 – Prevalence of PAH mutations in Georgian PKU patients compared to most frequent PAH mutations in European population GEORGIAN MEDICAL NEWS.
2020 – KRAS, NRAS, BRAF mutation spectrum in Georgian patients with metastatic colorectal cancer EUROPEAN JOURNAL OF HUMAN GENETICS.
2019 – Correlation of Vitamin D deficiency and PKU Genotype in Georgian patients EUROPEAN JOURNAL OF HUMAN GENETICS,
2019 – Molecular-Genetic Study of Phenylketonuria in Patients from Georgia RUSSIAN JOURNAL OF GENETICS,
2018 – Pilot Study of PAH Gene Mutation Spectrum In PKU Patients in Georgia BALKAN JOURNAL OF MEDICAL GENETICS
2013 – Seroprevalence and awareness of human papillomavirus infection and cervical cancer screening results among reproductive-aged Georgian women J FAM PLANNREPROD HEALTH CARE.