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Since the central nervous system cannot be treated by ERT, neuronopathic LSDs are generally not the primary target of NBS. An exception is Krabbe disease, in which hematopoietic stem cell transplantation before the onset of symptoms has benefits. However, NBS for LSD relies on measuring enzyme activities, so the most severely affected individuals (usually patients with neuronopathic subtypes) will be detected together with patients with less severe disease. In the near future, NBS is likely to be developed for diseases such as Gaucher, Niemann\u2010Pick A\/B, and certain mucopolysaccharidoses. The ability to predict phenotypes (neuronopathic or not) by enzyme activity and genotyping will therefore be critical for adequate patient management. This article reviews the status of LSD screening and issues concerning detection of neuronopathic LSDs by screening.<\/jats:p>","DOI":"10.1007\/s10545-010-9130-6","type":"journal-article","created":{"date-parts":[[2010,6,7]],"date-time":"2010-06-07T11:43:57Z","timestamp":1275911037000},"page":"381-386","source":"Crossref","is-referenced-by-count":21,"title":["Newborn screening for neuropathic lysosomal storage disorders"],"prefix":"10.1002","volume":"33","author":[{"given":"Wuh\u2010Liang","family":"Hwu","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Medical Genetics National Taiwan University Hospital and National Taiwan University College of Medicine Taipei Taiwan"},{"name":"Department of Medical Genetics National Taiwan University Hospital Taipei 100 Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin\u2010Hsiu","family":"Chien","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Medical Genetics National 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