Linked Life Data

14610674

Source:http://linkedlifedata.com/resource/pubmed/id/14610674

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2003-12-16
pubmed:abstractText
Lysosomal storage disorders have been recognised as one of the major groups of genetic disorders affecting children and adults. With over 40 different disorders and a combined prevalence of up to 1:5000 births, this group of disorders is a major public health problem and places an enormous burden on the individuals and families affected. Since the introduction of enzyme replacement therapy for Gaucher disease over 10 years ago there has been considerable progress in the development of enzyme based therapies for other disorders, in addition to alternate therapies including substrate deprivation and gene based therapies. Early diagnosis of these disorders before the onset of irreversible pathologies will lead to better outcomes for current and proposed therapies. In this review we describe the strategies and technology being used for the development of newborn screening for lysosomal storage disorders and discuss the future requirements for the early diagnosis and effective therapy of this group of disorders.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
162 Suppl 1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
S34-7
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Lysosomal storage disorders: emerging therapeutic options require early diagnosis.
pubmed:affiliation
Lysosomal Diseases Research Unit, Department of Genetic Medicine, Women's and Children's Hospital, 72 King William Road, Adelaide SA, Australia.
pubmed:publicationType
Journal Article, Review