Serum Steroid Profiling by Liquid Chromatography–Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report

Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders of steroid biosynthesis, in 95% of cases due to 21-hydroxylase deficiency. The resulting hormonal imbalances lead to increased 17-hydroxyprogesterone and androgens levels, at the expense of decreased concentratio...

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Detalles Bibliográficos
Autores principales: Cicalini, Ilaria, Tumini, Stefano, Guidone, Paola Irma, Pieragostino, Damiana, Zucchelli, Mirco, Franchi, Sara, Lisi, Gabriele, Lelli Chiesa, Pierluigi, Stuppia, Liborio, De Laurenzi, Vincenzo, Rossi, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950672/
https://www.ncbi.nlm.nih.gov/pubmed/31766536
http://dx.doi.org/10.3390/metabo9120284

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