Newborn screening in Fabry disease: what can be achieved with early diagnosis?
Bodamer
Olaf A
OA
Division of Biochemical Genetics, University Children's Hospital, Währinger Gürtel 18-20, Vienna, Austria. olaf.bodamer@meduniwien.ac.at
D015415:Biomarkers; D000795:Fabry Disease / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000175:diagnosis; D015997:Neonatal Screening; D053719:Tandem Mass Spectrometry
D015415:Biomarkers