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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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
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050576/...
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Spectrum of mutations in fucosidosis
Fucosidosis is a lysosomal storage disorder characterised by progressive psychomotor ... Fucosidosis is extremely rare with less than 100 patients
reported ...
http://www.nature.com/ejhg/journal/v7/n1/abs/5200272a.html...
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The enzymic defect and storage products in canine fucosidosis.
Electrophoretic forms of human liver alpha-L-fucosidase and their relationship to fucosidosis (mucopolysaccharidosis F). Clin Chim Acta. ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1144139/...
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Four year follow-up of a case of fucosidosis treated with ...
Fucosidosis is a rare autosomal recessive lysosomal disorder caused by alpha - fucosidase deficiency. We report a child with fucosidosis, second daughter of
...
http://www.nature.com/bmt/journal/v27/n7/full/1702994a.html...
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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.ncbi.nlm.nih.gov/pmc/articles/PMC1050861/...
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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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Ocular findings in a case of fucosidosis.
The ocular findings in a case of fucosidosis are described and the differential diagnosis is discussed. It is suggested that the level of alpha-L-fucosidase ...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017540/...
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