A Case of a Preterm Infant with 21-Hydroxylase Deficiency: Implications of the Biochemical Diagnosis with Urinary Pregnanetriolone by Gas Chromatography/Mass Spectrometry in Selected Ion Monitoring (GCMS-SIM)

The biochemical diagnosis of 21-hydroxylase deficiency (21-OHD) is difficult in preterm infants. To date, no marker for the biochemical diagnosis of 21-OHD has been found. Seventeen α-hydroxyprogesterone (17-OHP), is not useful because of interference by delta 5 steroids from the fetal adrenal corte...

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Detalles Bibliográficos
Autores principales: Hamajima, Takashi, Ohki, Shigeru, Imamine, Hiroki, Mizuno, Haruo, Homma, Keiko, Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2004
Materias:
Original
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004916/
https://www.ncbi.nlm.nih.gov/pubmed/24790300
http://dx.doi.org/10.1297/cpe.13.65

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