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Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation

There are mixed reports on the inclusion and use of 21 deoxycortisol (21DF) as the primary decision marker for classical 21-hydroxylase deficiency. We hypothesize that this may be due to insufficient recognition of the presence and chromatographic separation of isomeric steroids. The aim of this stu...

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Detalles Bibliográficos
Autores principales: Greaves, Ronda F., Kumar, Monish, Mawad, Nazha, Francescon, Alberto, Le, Chris, O’Connell, Michele, Chi, James, Pitt, James
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10594498/
https://www.ncbi.nlm.nih.gov/pubmed/37873849
http://dx.doi.org/10.3390/ijns9040058