Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-011-9436-z
Reference37 articles.
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3. Barr C, Clarke JT, Ntwari A, Drouin R, Auray-Blais C (2007) Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6 months. Mol Genet Metab 97(4):278–283
4. Beck M (2001) Variable clinical presentation in lysosomal storage disorders. J Inherit Metab Dis 24(suppl 2):47–51
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