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The Proximal Tubule in Cystinosis
Author(s) -
Robert L. Chevalier
Publication year - 2014
Publication title -
journal of the american society of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.451
H-Index - 279
eISSN - 1533-3450
pISSN - 1046-6673
DOI - 10.1681/asn.2014010058
Subject(s) - cystinosis , proximal tubule , renal tubule , medicine , kidney tubules , kidney , chemistry , cystine , biochemistry , cysteine , enzyme
Although rare, nephropathic cystinosis is a devastating monogenic disorder leading to renal failure in the second decade of life. Fanconi syndrome, the initial renal manifestation of cystinosis in the young child, established the proximal tubule as a primary target of injury now recognized as the

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