Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.

2010 
Molecular Genetic and Bile Acid Profiles in Two Japanese Patients With 3β-Hydroxy-Δ 5 -C 27 -Steroid Dehydrogenase/Isomerase Deficiency
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