Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body. There are three different forms: infantile nephrop...
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| Main Authors: | , |
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| Format: | Book |
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Frontiers Media S.A.,
2018-03-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |