https://scholars.lib.ntu.edu.tw/handle/123456789/525164
標題: | Newborn screening for neuropathic lysosomal storage disorders | 作者: | WUH-LIANG HWU YIN-HSIU CHIEN NI-CHUNG LEE |
公開日期: | 2010 | 卷: | 33 | 期: | 4 | 起(迄)頁: | 381-386 | 來源出版物: | Journal of Inherited Metabolic Disease | 摘要: | Interest in newborn screening (NBS) for lysosomal storage disorders (LSDs) has increased significantly due to newly developed enzyme replacement therapy (ERT), the need for early diagnosis, and advances in technical developments. 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-Pick 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. ? 2010 SSIEM and Springer. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-77956058818&doi=10.1007%2fs10545-010-9130-6&partnerID=40&md5=8b8be807a514dbeae2c94f6a92b6f5d1 https://scholars.lib.ntu.edu.tw/handle/123456789/525164 |
ISSN: | 0141-8955 | DOI: | 10.1007/s10545-010-9130-6 | SDG/關鍵字: | disease classification; disease severity; early diagnosis; enzyme activity; Gaucher disease; genotype; globoid cell leukodystrophy; hematopoietic stem cell transplantation; human; lysosome storage disease; mucopolysaccharidosis; newborn; newborn screening; Niemann Pick disease; phenotype; review; genetic screening; genetics; Lysosomal Storage Diseases; Genetic Testing; Humans; Infant, Newborn; Lysosomal Storage Diseases; Neonatal Screening; Genetic Testing; Humans; Infant, Newborn; Lysosomal Storage Diseases; Neonatal Screening |
顯示於: | 醫學系 |
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