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...

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Bibliografiske detaljer
Udgivet i:J Korean Med Sci
Main Authors: Hong, Jeana, Oh, Seak Hee, Yoo, Han-Wook, Nittono, Hiroshi, Kimura, Akihiko, Kim, Kyung Mo
Format: Artigo
Sprog:Inglês
Udgivet: The Korean Academy of Medical Sciences 2018
Fag:
Case Report
Online adgang: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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