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https://hdl.handle.net/2440/35755
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Type: | Journal article |
Title: | Screening for lysosomal storage disorders - a clinical perspective |
Author: | Fletcher, J. |
Citation: | Journal of Inherited Metabolic Disease, 2006; 29(2-3):405-408 |
Publisher: | Kluwer Academic Publ |
Issue Date: | 2006 |
ISSN: | 0141-8955 1573-2665 |
Statement of Responsibility: | Janice M. Fletcher |
Abstract: | The availability of therapies for lysosomal storage diseases (LSDs) and clear documentation from animal studies that optimal therapy depends on early diagnosis have set the scene for newborn screening for LSDs. The combined incidence of this group of conditions is approximately 1 in 7000, well within the feasible range for newborn screening programmes. The availability of multiplex technology has facilitated the technical aspects of initial screening. The scientific challenge is to predict disease severity early enough to influence choice of therapy. LSD screening is discussed from the point of view of the scientists, the families affected by these conditions, the community and clinicians. |
Keywords: | Humans Lysosomal Storage Diseases Prenatal Diagnosis Neonatal Screening Severity of Illness Index Health Knowledge, Attitudes, Practice Pregnancy Informed Consent Bioethical Issues Infant, Newborn Female Tandem Mass Spectrometry Genetic Testing |
DOI: | 10.1007/s10545-006-0246-7 |
Published version: | http://dx.doi.org/10.1007/s10545-006-0246-7 |
Appears in Collections: | Aurora harvest 6 Paediatrics publications |
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