Fucosidosis - Wikipedia, the free encyclopedia
Fucosidosis, also called alpha-l-fucosidase deficiency, is a rare autosomal recessive lysosomal storage disease in which the enzyme fucosidase is not ...
http://en.wikipedia.org/wiki/Fucosidosis...
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OMIM - FUCOSIDOSIS
MIM #230000 · Text · Description · Clinical Features · Biochemical Features · Population Genetics · Molecular Genetics ...
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=230000...
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Fucosidosis - Genetics Home Reference
Fucosidosis is a condition that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with ...
http://ghr.nlm.nih.gov/condition=fucosidosis...
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Fucosidosis
A US Department of Health and Human Service project providing information on genetic and rare diseases. A comprehensive body of resources on Fucosidosis.
http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&...
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Fucosidosis in a native-born Briton.
This investigation reports the biochemical findings in a native-born Briton suffering from the adult form of fucosidosis. Alpha-L-fucosidase ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC476373/...
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The molecular defect underlying canine fucosidosis.
Fucosidosis is a lysosomal storage disease which affects humans and English springer spaniel dogs. The disease is recessively inherited in both species and
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http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=10...
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Fucosidosis revisited: a review of 77 patients.
Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase in all tissues. ...
http://www.ncbi.nlm.nih.gov/pubmed/2012122...
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Fucosidosis: genetic and biochemical analysis of eight cases.
Characterization of EcoRI mutation in fucosidosis patients: a stop codon in the open reading frame. J Mol Neurosci. 1989;1(3):177–180. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=10...
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Fucosidosis with angiokeratoma. Immunohistochemical ...
Fucosidosis is a rare lysosomal storage disease due to alpha-L-fucosidase deficiency. It presents clinically with neurological, skeletal, and cutaneous
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http://www.ncbi.nlm.nih.gov/pubmed/16008696...
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Animal Welfare, Cat, Dog, Horse, Charity, Donations, Animal Health ...
Research groups in the UK and Australia have identified the genetic defect underlying fucosidosis in English Springer Spaniels. It is a deletion (ie a
small ...
http://www.aht.org.uk/genetics_fucosidosis.html...
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