Newborn screening for lysosomal storage disorders

Lysosomal storage disorders (LSD) are chronic progressive diseases that have a devastating impact on the patient and family. Most patients are clinically normal at birth but develop symptoms early in childhood. Despite no curative treatment, a number of therapeutic options are available to improve q...

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Veröffentlicht in:	Molecular genetics and metabolism 2006-08, Vol.88 (4), p.307-314
Hauptverfasser:	Meikle, Peter J., Grasby, Dallas J., Dean, Caroline J., Lang, Debbie L., Bockmann, Michelle, Whittle, Alison M., Fietz, Michael J., Simonsen, Henrik, Fuller, Maria, Brooks, Douglas A., Hopwood, John J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Case-Control Studies Diagnosis Dried blood-spot Fabry disease Gaucher disease Humans Infant, Newborn Lysosomal Storage Diseases - blood Lysosomal Storage Diseases - diagnosis Lysosomal Storage Diseases - enzymology Mucopolysaccharidosis Multiplex immune-quantification assay Neonatal Screening Pompe disease Proteins - analysis Proteins - immunology Retrospective Studies
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