The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS
NEUROPEDIATRICS, cilt.52, sa.05, ss.358-369, 2021 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 52 Sayı: 05
- Basım Tarihi: 2021
- Doi Numarası: 10.1055/s-0040-1722691
- Dergi Adı: NEUROPEDIATRICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
- Sayfa Sayıları: ss.358-369
- Anahtar Kelimeler: glutaric aciduria type 1, acute encephalopathic crises, newborn screening program, dystonia, ACIDURIA TYPE-I, GLUTARIC ACIDURIA, DEHYDROGENASE-DEFICIENCY, MUTATION ANALYSIS, NATURAL-HISTORY, CHILDREN, MANAGEMENT, EFFICACY, TYPE-1
- Çukurova Üniversitesi Adresli: Evet
Özet
Background Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises during the first 6 years of life. In so far as GA-1 desperately does not exist in Turkish newborn screening (NBS) program, most patients in our study were late-diagnosed.