Source:http://linkedlifedata.com/resource/pubmed/id/20490930
| Subject | Predicate | Object | Context |
|---|---|---|---|
| pubmed-article:20490930 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20490930 | lifeskim:mentions | umls-concept:C0012634 | lld:lifeskim |
| pubmed-article:20490930 | lifeskim:mentions | umls-concept:C0683325 | lld:lifeskim |
| pubmed-article:20490930 | lifeskim:mentions | umls-concept:C1698986 | lld:lifeskim |
| pubmed-article:20490930 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:20490930 | pubmed:dateCreated | 2010-7-14 | lld:pubmed |
| pubmed-article:20490930 | pubmed:abstractText | The purpose of this review is to describe neurological phenotypes associated with lysosomal storage diseases (LSDs), focusing on features arising from primary neuronal involvement. Clinical presentation, progression and genetic data, are discussed in detail in Part 2, the electronic material. Main features are summarized in Part 1. Insights gained from several observational studies are discussed. Prospective studies of the natural history of most neuronopathic LSDs have been hampered by the rarity of these conditions and the short survival of affected patients. Increasingly, longitudinal observations relating to neurological manifestations are being reported. Better clinical studies are necessary, including repeated measurements of disease progression to facilitate the development of sensitive scoring systems and appropriate counseling of affected individuals and their families. Ideally, clinical studies should involve a large cohort. As treatment becomes available, knowledge of disease expression and factors that influence the phenotype may enable critical assessment of therapeutic outcomes. It is hoped that increased familiarity with the clinical expression of individual LSDs will allow early diagnosis, so families at risk are given options to consider during future pregnancies. Early diagnosis also permits the introduction of timely intervention, to favoring improved outcome in cases that are potentially treatable. | lld:pubmed |
| pubmed-article:20490930 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20490930 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20490930 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20490930 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20490930 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:20490930 | pubmed:issn | 1573-2665 | lld:pubmed |
| pubmed-article:20490930 | pubmed:author | pubmed-author:JardimLaura... | lld:pubmed |
| pubmed-article:20490930 | pubmed:author | pubmed-author:VillanuevaMar... | lld:pubmed |
| pubmed-article:20490930 | pubmed:author | pubmed-author:de... | lld:pubmed |
| pubmed-article:20490930 | pubmed:author | pubmed-author:NettoCristina... | lld:pubmed |
| pubmed-article:20490930 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20490930 | pubmed:volume | 33 | lld:pubmed |
| pubmed-article:20490930 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20490930 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20490930 | pubmed:pagination | 315-29 | lld:pubmed |
| pubmed-article:20490930 | pubmed:meshHeading | pubmed-meshheading:20490930... | lld:pubmed |
| pubmed-article:20490930 | pubmed:meshHeading | pubmed-meshheading:20490930... | lld:pubmed |
| pubmed-article:20490930 | pubmed:meshHeading | pubmed-meshheading:20490930... | lld:pubmed |
| pubmed-article:20490930 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20490930 | pubmed:articleTitle | Clinical aspects of neuropathic lysosomal storage disorders. | lld:pubmed |
| pubmed-article:20490930 | pubmed:affiliation | Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos 2350, 90035-903, Porto Alegre, Brazil. ljardim@hcpa.ufrgs.br | lld:pubmed |
| pubmed-article:20490930 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20490930 | pubmed:publicationType | Review | lld:pubmed |
| pubmed-article:20490930 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |