Wednesday, June 26, 2013

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.

Newborn screening for lysosomal storage disorders and other neuronopathic conditions.Matern D, Oglesbee D, Tortorelli S.; Dev Disabil Res Rev. 2013 Jun;17(3):247-253. doi: 10.1002/ddrr.1117.

Keywords: Newborn screening (NBS), public health program, 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, Friedreich ataxia.