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Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 4, p. 508, doi. 10.1007/s10545-008-0900-3
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Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.
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- Kidney International, 2006, v. 70, n. 6, p. 1155, doi. 10.1038/sj.ki.5001728
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- Article