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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2006-2-24
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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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0803-5253
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
95
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
86-92
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:16498740-Adolescent,
pubmed-meshheading:16498740-Age of Onset,
pubmed-meshheading:16498740-Child,
pubmed-meshheading:16498740-Child, Preschool,
pubmed-meshheading:16498740-DNA Mutational Analysis,
pubmed-meshheading:16498740-Fabry Disease,
pubmed-meshheading:16498740-Female,
pubmed-meshheading:16498740-Heterozygote,
pubmed-meshheading:16498740-Humans,
pubmed-meshheading:16498740-Isoenzymes,
pubmed-meshheading:16498740-Male,
pubmed-meshheading:16498740-Outcome Assessment (Health Care),
pubmed-meshheading:16498740-alpha-Galactosidase
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pubmed:year |
2006
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pubmed:articleTitle |
Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.
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pubmed:affiliation |
Department of Paediatric Endocrinology, Diabetes and Metabolism, Addenbrooke's Hospital, Cambridge, UK. uma.ramaswami@addenbrookes.nhs.uk
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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