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PLOS Thesaurus
Last uploaded:
September 21, 2017
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| Preferred Name | Fabry disease | |
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http://localhost/plosthes.2017-1#1540613 |
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Fabry disease
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| prefLabel |
Fabry disease
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| Previous_History |
2017/05/17 04:00 created by artur 2017/05/17 04:01 TM UPDATE Field SN updated by artur 2017/05/17 04:01 Synonym Fabry's disease added by artur 2017/05/17 04:01 Synonym Anderson-Fabry disease added by artur 2017/05/17 04:02 Synonym angiokeratoma corporis diffusum added by artur 2017/05/17 04:02 Synonym alpha-galactosidase A deficiency added by artur
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| scopeNote |
Fabry disease (/ˈfɑːbri/) (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum, and alpha-galactosidase A deficiency) is a rare genetic lysosomal storage disease, inherited in an X-linked manner. Fabry disease can cause a wide range of systemic symptoms. It is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. The disease is named after one of its discoverers, Johannes Fabry (June 1, 1860 – June 29, 1930). https://en.wikipedia.org/wiki/Fabry_disease
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Accepted
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