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Titel:

Fabry disease: recognition and management of cutaneous manifestations.

Dokumenttyp:
Journal Article; Review; Review
Autor(en):
Möhrenschlager, M; Braun-Falco, M; Ring, J; Abeck, D
Abstract:
Fabry disease (angiokeratoma corporis diffusum universale) is a rare, X chromosome-linked lysosomal storage disease. The deficient enzyme, alpha-galactosidase A (alpha-gal A), is responsible for the accumulation of neutral glycosphingolipids within vascular endothelial lysosomes of various organs, including skin, kidneys, heart, and brain. The disease manifests primarily in affected hemizygous men and to some extent in heterozygous women ('carriers'). The diagnosis of Fabry disease is made in he...     »
Zeitschriftentitel:
Am J Clin Dermatol
Jahr:
2003
Band / Volume:
4
Heft / Issue:
3
Seitenangaben Beitrag:
189-96
Sprache:
eng
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/12627994
Print-ISSN:
1175-0561
TUM Einrichtung:
Klinik und Poliklinik für Dermatologie und Allergologie
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