Title : Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.

Pub. Date : 2021 Apr 13

PMID : 33849447






1 Functional Relationships(s)
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1 CONCLUSIONS: In summary, these findings highlight that the phenotype of CYP7B1 deficiency varies widely, even in siblings and that early administration of chenodeoxycholic acid may improve prognosis. Chenodeoxycholic Acid cytochrome P450 family 7 subfamily B member 1 Homo sapiens