Fabry disease

Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart v...

Full description

Other Authors: Elstein, Deborah., Altarescu, Gheona., Beck, M., SpringerLink (Online Service)
Format: eBook
Language: English
Published: Dordrecht ; London : Springer, 2010.
Physical Description: 1 online resource (xxxvii, 512 pages) : tables, figures (some color)
Subjects:

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