∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid
Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi, Margarete Rathert, Barbara Rohmer, Enke Grabhorn, Marion Almes, Veena Logarajah, Luis Peña-Quintana, Thomas Casswall, Amaria Darmellah-Remil, Ana Reyes-Domínguez, Emna Barkaoui, Loreto Hierro, Carolina Baquero-Montoya, Ulrich Baumann, Björn Fisc · 2023
Read ∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid by Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi, Margarete Rathert, Barbara Rohmer, Enke Grabhorn, Marion Almes, Veena Logarajah, Luis Peña-Quintana, Thomas Casswall, Amaria Darmellah-Remil, Ana Reyes-Domínguez, Emna Barkaoui, Loreto Hierro, Carolina Baquero-Montoya, Ulrich Baumann, Björn Fisc (2023) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-10704681.txt.
Description
Antoine Gardin and co-authors reported good outcomes in 2023 for sixteen patients with a rare bile acid synthesis defect treated with oral cholic acid. The missing enzyme normally helps the liver make bile acids, and its absence poisons the liver from infancy. Cholic acid therapy works in a sister defect, but this rarer form had few treated cases on record.
All sixteen patients had the defect confirmed by gene sequencing and were reviewed after treatment. First symptoms appeared early in life, at a median age of two months in the cohort. The title gives the overall verdict: outcomes were favorable on the therapy. The byline is a long team list, framed here by its lead author. Readers get the largest treatment account for a defect most doctors will never see.
Catalog record
| CREATOR | Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi, Margarete Rathert, Barbara Rohmer, Enke Grabhorn, Marion Almes, Veena Logarajah, Luis Peña-Quintana, Thomas Casswall, Amaria Darmellah-Remil, Ana Reyes-Domínguez, Emna Barkaoui, Loreto Hierro, Carolina Baquero-Montoya, Ulrich Baumann, Björn Fisc |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 30 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |