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-Δ(5)-C(27)-steroid dehydrogenase (3β-HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of chol...

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Detalles Bibliográficos
Autores principales: Bossi, Grazia, Giordano, Giuseppe, Rispoli, Gaetana Anna, Maggiore, Giuseppe, Naturale, Mauro, Marchetti, Daniela, Iascone, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Scientific Publications, Pavia, Italy 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643950/
https://www.ncbi.nlm.nih.gov/pubmed/29081931
http://dx.doi.org/10.4081/pr.2017.7266

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