Two neonatal cholestasis patients with mutations in the SRD5B1 (AKR1D1) gene: diagnosis and bile acid profiles during chenodeoxycholic acid treatment.
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Seki Y, et al. Among authors: hoshina t.
J Inherit Metab Dis. 2013 May;36(3):565-73. doi: 10.1007/s10545-012-9526-6. Epub 2012 Nov 16.
J Inherit Metab Dis. 2013.
PMID: 23160874