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Bile acid synthesis defect, congenital, 1
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of
, Congenital Bile Acid Synthesis Defect Type 1 (CBAS1)
National Institutes of Health
Autosomal recessive inheritance
Cholestasis, progressive familial intrahepatic 4
Failure to Thrive
Steroid Metabolism, Inborn Errors
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Novel Mutations in the 3β-hydroxy-Δ5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis
Chinese medical journal
Corpus ID: 100302
Bile acid synthetic defect (BASD) is a rare category of genetic disorders that are responsible for approximately 2% of persistent…
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