The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS.

Sebile Kılavuz Fatma Derya Bulut Deniz Kor Berna Seker Yilmaz Neslihan Özcan Faruk Incecik Hasan Bilen Onan Gülay Ceylaner Halise Neslihan Onenli Mungan

Published in: Neuropediatrics (2021)

All GA-1 patients in our study were severely affected since they were late-diagnosed, while others show that GA-1 is a treatable metabolic disorder if it is diagnosed with NBS. This study provides an essential perspective of the severe impact on GA-1 patients unless it is diagnosed with NBS. We immediately advocate GA-1 to be included in the Turkish NBS.

Keyphrases

pet ct
end stage renal disease
ejection fraction
newly diagnosed
peritoneal dialysis
prognostic factors