| pubmed-article:14610674 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:14610674 | lifeskim:mentions | umls-concept:C0012634 | lld:lifeskim |
| pubmed-article:14610674 | lifeskim:mentions | umls-concept:C0596473 | lld:lifeskim |
| pubmed-article:14610674 | lifeskim:mentions | umls-concept:C1698986 | lld:lifeskim |
| pubmed-article:14610674 | lifeskim:mentions | umls-concept:C0302350 | lld:lifeskim |
| pubmed-article:14610674 | lifeskim:mentions | umls-concept:C1518601 | lld:lifeskim |
| pubmed-article:14610674 | lifeskim:mentions | umls-concept:C1546857 | lld:lifeskim |
| pubmed-article:14610674 | pubmed:dateCreated | 2003-12-16 | lld:pubmed |
| pubmed-article:14610674 | 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. | lld:pubmed |
| pubmed-article:14610674 | pubmed:language | eng | lld:pubmed |
| pubmed-article:14610674 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:14610674 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:14610674 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:14610674 | pubmed:month | Dec | lld:pubmed |
| pubmed-article:14610674 | pubmed:issn | 0340-6199 | lld:pubmed |
| pubmed-article:14610674 | pubmed:author | pubmed-author:HopwoodJohn... | lld:pubmed |
| pubmed-article:14610674 | pubmed:author | pubmed-author:MeiklePeter... | lld:pubmed |
| pubmed-article:14610674 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:14610674 | pubmed:volume | 162 Suppl 1 | lld:pubmed |
| pubmed-article:14610674 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:14610674 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:14610674 | pubmed:pagination | S34-7 | lld:pubmed |
| pubmed-article:14610674 | pubmed:dateRevised | 2005-11-16 | lld:pubmed |
| pubmed-article:14610674 | pubmed:meshHeading | pubmed-meshheading:14610674... | lld:pubmed |
| pubmed-article:14610674 | pubmed:meshHeading | pubmed-meshheading:14610674... | lld:pubmed |
| pubmed-article:14610674 | pubmed:meshHeading | pubmed-meshheading:14610674... | lld:pubmed |
| pubmed-article:14610674 | pubmed:meshHeading | pubmed-meshheading:14610674... | lld:pubmed |
| pubmed-article:14610674 | pubmed:meshHeading | pubmed-meshheading:14610674... | lld:pubmed |
| pubmed-article:14610674 | pubmed:meshHeading | pubmed-meshheading:14610674... | lld:pubmed |
| pubmed-article:14610674 | pubmed:meshHeading | pubmed-meshheading:14610674... | lld:pubmed |
| pubmed-article:14610674 | pubmed:year | 2003 | lld:pubmed |
| pubmed-article:14610674 | pubmed:articleTitle | Lysosomal storage disorders: emerging therapeutic options require early diagnosis. | lld:pubmed |
| pubmed-article:14610674 | pubmed:affiliation | Lysosomal Diseases Research Unit, Department of Genetic Medicine, Women's and Children's Hospital, 72 King William Road, Adelaide SA, Australia. | lld:pubmed |
| pubmed-article:14610674 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:14610674 | pubmed:publicationType | Review | lld:pubmed |
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