Clinical and molecular findings in 6 Turkish cases with Krabbe disease

CONCLUSIONS: We believe that the demonstration of the genetic spectrum of infantile-onset Krabbe disease in Turkish patients will be an important contribution to the GALC mutation data in our country. More importantly, two novel variants were defined. This knowledge may enable early detection and treatment with the advent of a carrier or newborn screening tests.PMID:35286032 | DOI:10.24953/turkjped.2020.3713

Source: The Turkish Journal of Pediatrics - March 14, 2022 Category: Pediatrics Authors: Ay ça Dilruba Aslanger Esma Şengenç Ay şe Betül Kölemen Emine Demiral Alpay Alkan Ak ın İşcan G özde Yeşil Source Type: research