Fat Malabsorption and Ursodeoxycholic Acid Treatment in Children With Reduced Organic Solute Transporter-α (SLC51A) Expression

A bile acid homeostasis disorder was suspected in 2 siblings and their second cousin who presented in infancy with fat malabsorption, severe fat-soluble vitamin deficiency, rickets, and mild liver involvement. Our aims were to identify the genetic cause, describe the disease, and evaluate the respon...

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Detalles Bibliográficos
Autores principales: Tronstad, Rune Rose, Berland, Siren, Tjora, Erling, El Jellas, Khadija, Aukrust, Ingvild, Kristensen, Kurt, Tveitnes, Dag, Molven, Anders, Marschall, Hanns-Ulrich, Rao, Anuradha, Dawson, Paul A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491403/
https://www.ncbi.nlm.nih.gov/pubmed/36148443
http://dx.doi.org/10.1097/PG9.0000000000000229

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491403/
https://www.ncbi.nlm.nih.gov/pubmed/36148443
http://dx.doi.org/10.1097/PG9.0000000000000229

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