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Carboxyl-terminal truncations alter the activity of the human α-galactosidase A.
Fabry disease is an X-linked inborn error of glycolipid metabolism caused by deficiency of the human lysosomal enzyme, α-galactosidase A (αGal), leading to strokes, myocardial infarctions, and terminal renal failure, often leading to death in the fourth or fifth decade of life. The enzyme is respons...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Public Library of Science (PLoS)
2015-01-01
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| Edice: | PLoS ONE |
| On-line přístup: | http://europepmc.org/articles/PMC4342250?pdf=render |
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