α-Galactosidase A deficient mice: A model of Fabry disease

Fabry disease is an X-linked inherited metabolic disorder that is caused by a deficiency of α-galactosidase A (α-Gal A). Progressive deposition of neutral glycosphingolipids that have terminal α-linked galactosyl moieties in vascular endothelial cells causes renal failure along with premature myocar...

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Hlavní autoři: Ohshima, Toshio, Murray, Gary J., Swaim, William D., Longenecker, Glenn, Quirk, Jane M., Cardarelli, Carol O., Sugimoto, Yoshikazu, Pastan, Ira, Gottesman, Michael M., Brady, Roscoe O., Kulkarni, Ashok B.
Médium: Artigo
Jazyk:Inglês
Vydáno: The National Academy of Sciences of the USA 1997
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC20124/
https://ncbi.nlm.nih.gov/pubmed/9122231
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