Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene
We report definitive diagnosis and effective treatment with oral cholic acid in one Italian male child affected by 3β- hydroxy-Δ5-C27-steroid dehydrogenase (3β- HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of choles...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
MDPI AG,
2017-10-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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