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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
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 disease even in early infancy, a high index of suspicion is required to prevent fatal outcomes. We de...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Korean Med Sci |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
The Korean Academy of Medical Sciences
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6291407/ https://ncbi.nlm.nih.gov/pubmed/30546280 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2018.33.e324 |
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