Fucosidosis: Difference between revisions
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* [http://www.lysosomallearning.com/healthcare/about/lsd_hc_abt_fucosidosis1.asp Lysosomal Learning site] | * [http://www.lysosomallearning.com/healthcare/about/lsd_hc_abt_fucosidosis1.asp Lysosomal Learning site] | ||
{{Endocrine, nutritional and metabolic pathology}} | {{Endocrine, nutritional and metabolic pathology}} | ||
[[Category:Inborn errors of metabolism]] | [[Category:Inborn errors of metabolism]] | ||
Revision as of 02:53, 9 August 2012
| Fucosidosis | |
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| Fucose | |
| ICD-10 | E77.1 |
| ICD-9 | 271.8 |
| OMIM | 230000 |
| DiseasesDB | 29471 |
| MeSH | D005645 |
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WikiDoc Resources for Fucosidosis |
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Articles |
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Most recent articles on Fucosidosis Most cited articles on Fucosidosis |
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Media |
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Powerpoint slides on Fucosidosis |
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Evidence Based Medicine |
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Clinical Trials |
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Ongoing Trials on Fucosidosis at Clinical Trials.gov Clinical Trials on Fucosidosis at Google
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Guidelines / Policies / Govt |
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US National Guidelines Clearinghouse on Fucosidosis
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Books |
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News |
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Commentary |
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Definitions |
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Patient Resources / Community |
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Patient resources on Fucosidosis Discussion groups on Fucosidosis Patient Handouts on Fucosidosis Directions to Hospitals Treating Fucosidosis Risk calculators and risk factors for Fucosidosis
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Healthcare Provider Resources |
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Causes & Risk Factors for Fucosidosis |
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Continuing Medical Education (CME) |
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International |
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Business |
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Experimental / Informatics |
Overview
Fucosidosis is an autosomal recessive disease in which fucosidase is not properly used in the cells to break fucose.
There are at least two types of fucosidosis. In type 1, patients have no vascular lesions, but have rapid psychomotor regression, severe and rapidly progressing neurologic signs, elevated sodium and chloride excretion in the sweat, and fatal outcome before the sixth year. In type 2, patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat.
External links
Template:Endocrine, nutritional and metabolic pathology
fi:Fukosidoosi