pubmed-article:16498740 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:16498740 | lifeskim:mentions | umls-concept:C0008059 | lld:lifeskim |
pubmed-article:16498740 | lifeskim:mentions | umls-concept:C0002986 | lld:lifeskim |
pubmed-article:16498740 | lifeskim:mentions | umls-concept:C1274040 | lld:lifeskim |
pubmed-article:16498740 | lifeskim:mentions | umls-concept:C1511726 | lld:lifeskim |
pubmed-article:16498740 | lifeskim:mentions | umls-concept:C0038951 | lld:lifeskim |
pubmed-article:16498740 | lifeskim:mentions | umls-concept:C0205210 | lld:lifeskim |
pubmed-article:16498740 | lifeskim:mentions | umls-concept:C1280464 | lld:lifeskim |
pubmed-article:16498740 | pubmed:issue | 1 | lld:pubmed |
pubmed-article:16498740 | pubmed:dateCreated | 2006-2-24 | lld:pubmed |
pubmed-article:16498740 | pubmed:abstractText | Fabry disease is a rare X-linked disorder caused by deficient activity of the enzyme alpha-galactosidase A. This produces progressive lysosomal accumulation of globotriaosylceramide throughout the body, leading to organ failure and premature death. | lld:pubmed |
pubmed-article:16498740 | pubmed:language | eng | lld:pubmed |
pubmed-article:16498740 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:16498740 | pubmed:citationSubset | IM | lld:pubmed |
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pubmed-article:16498740 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:16498740 | pubmed:month | Jan | lld:pubmed |
pubmed-article:16498740 | pubmed:issn | 0803-5253 | lld:pubmed |
pubmed-article:16498740 | pubmed:author | pubmed-author:Sunder-Plassm... | lld:pubmed |
pubmed-article:16498740 | pubmed:author | pubmed-author:MehtaAtulA | lld:pubmed |
pubmed-article:16498740 | pubmed:author | pubmed-author:BeckMichaelM | lld:pubmed |
pubmed-article:16498740 | pubmed:author | pubmed-author:WidmerUrsU | lld:pubmed |
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pubmed-article:16498740 | pubmed:author | pubmed-author:RamaswamiUmaU | lld:pubmed |
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pubmed-article:16498740 | pubmed:author | pubmed-author:PariniRosella... | lld:pubmed |
pubmed-article:16498740 | pubmed:author | pubmed-author:Pintos-Morell... | lld:pubmed |
pubmed-article:16498740 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:16498740 | pubmed:volume | 95 | lld:pubmed |
pubmed-article:16498740 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:16498740 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:16498740 | pubmed:pagination | 86-92 | lld:pubmed |
pubmed-article:16498740 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
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pubmed-article:16498740 | pubmed:year | 2006 | lld:pubmed |
pubmed-article:16498740 | pubmed:articleTitle | Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. | lld:pubmed |
pubmed-article:16498740 | pubmed:affiliation | Department of Paediatric Endocrinology, Diabetes and Metabolism, Addenbrooke's Hospital, Cambridge, UK. uma.ramaswami@addenbrookes.nhs.uk | lld:pubmed |
pubmed-article:16498740 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:16498740 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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