α-Gal A, GLA, Fabry disease, hypohidrosis, newborn screening
Gene therapy, newborn screening, onasemnogene abeparvovec, spinal muscular atrophy, SMN1
Fluorescence probe, newborn screening, quantitative real-time PCR, SLC25A13, Sanger sequencing
Adenosine deaminase deficiency, newborn screening, Deoxyadenosine, Severe combined immunodeficiency, Purine metabolism
Adolescent and adult citrin deficiency, end stage liver disease, hepatic encephalopathy, intellectual disability, liver transplantation
