caa a22 4500 467933316 CHVBK 20180406152949.0 cr unu---uuuuu 170328e20060401xx s 000 0 eng 10.1007/s10545-006-0246-7 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0246-7 Fletcher Janice Department of Genetic Medicine, Women's and Children's Hospital, 72 King William Rd, 5006, North Adelaide, South Australia, Australia aut Screening for lysosomal storage disorders—A clinical perspective [Elektronische Daten] [Janice Fletcher] Summary: 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. SSIEM and Springer, 2006 Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 405-408 0141-8955 29:2-3<405 2006 29 10545 https://doi.org/10.1007/s10545-006-0246-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0246-7 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Fletcher Janice Department of Genetic Medicine, Women's and Children's Hospital, 72 King William Rd, 5006, North Adelaide, South Australia, Australia aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 405-408 0141-8955 29:2-3<405 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer