- Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review
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Hong J, Oh SH, Yoo HW, Nittono H, Kimura A, Kim KM
- KMID: 2428634
- J Korean Med Sci.
- 2018 Dec;33(51):e324.
- doi: 10.3346/jkms.2018.33.e324
Oxysterol 7α-hydroxylase deficiency is a very rare liver disease categorized as inborn errors of bile acid synthesis, caused by CYP7B1 mutations. As it may cause rapid progression to end-stage liver... -
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