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SLC26A1 is a major determinant of sulfate homeostasis in humans.
J Clin Invest. 2023 Feb 1;133(3):e161849. doi: 10.1172/JCI161849.
J Clin Invest. 2023.
PMID: 36719378
Free PMC article.
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI, Smith DE, Pop A, Lennertz P, Fernandez Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Barić I, Boelen C, Campistol J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M, Salomons GS.
Mendes MI, et al. Among authors: smith de.
Hum Mutat. 2017 May;38(5):524-531. doi: 10.1002/humu.23181. Epub 2017 Feb 14.
Hum Mutat. 2017.
PMID: 28101991
Free PMC article.
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