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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Metabolites
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: MDPI 2019
Θέματα:
Case Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6950672/
https://ncbi.nlm.nih.gov/pubmed/31766536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/metabo9120284
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