Newborn+Screening+TL


 * ==== no state screens for **Pompe**, and only one state, New York, screens for **Krabbe** disease. ====
 * ==== ‍ Krabbe is like pompe disease ====
 * ==== ‍three other similar diseases - Gaucher, Niemann-Pick, and Fabry ====
 * ==== To evaluate the diagnostic efficacy of GAA measurement in dried blood specimens (DBSs) in comparison with lymphocytes. If DBSs provided reliable results, the diagnosis of Pompe disease could be facilitated, and high-throughput screening would become possible . ====
 * ====The fluorometric technique for the assessment of GAA activity in DBS provides a reliable diagnosis for all variants of Pompe disease. The assay protocol could be simplified for neonatal screening, without increasing the false positive rate significantly or burdening the laboratory with time-consuming procedures.====
 * ====Traditionally, lymphocytes, fibroblasts or muscle biopsies were necessary for enzyme activity measurement====

**Why is the treatment for Pompe disease so expensive?**
====Enzyme-replacement drugs are expensive to make and they need to be given frequently. They're quite effective but only have effects within the body. If you have a disease which affects the brain, you have considerably more problems because you have to get [the drugs] into the brain.====

** Bibliography: **
2010 Pacific Time May 28, 2010,NINDS,Office of Communications and Public Liaison,National Institute of Neurological Disorders and StrokeNational Institutes of Health,Bethesda, MD 20892 29 May 2011 at 01:57,Wikipedia,[|Wikimedia Foundation, Inc.], 2009,ENMC 2010 Feb ,[|U.S. National Library of Medicine], [|National Center for Biotechnology Information], [|Lukacs Z], [|Nieves Cobos P], [|Mengel E], [|Hartung R], [|Beck M], [|Deschauer M], [|Keil A], [|Santer R]. 2011 Scientific American, a Division of Nature America,[|Katie Moisse]
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