The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens.
about
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guidelineRecent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyMass spectrometry techniques in the survey of steroid metabolites as potential disease biomarkers: a review.Holistic management of DSD.Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS).Metabolic Profiling of Human Blood by High Resolution Ion Mobility Mass Spectrometry (IM-MS).Steroid assays in paediatric endocrinology.Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency).Steroid profiling by gas chromatography-mass spectrometry and high performance liquid chromatography-mass spectrometry for adrenal diseases.Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites.Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening.A case of female pseudohermaphroditism caused by aromatase deficiency.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).Bringing GC-MS profiling of steroids into clinical applications.Derivatization of steroids in biological samples for GC-MS and LC-MS analyses.Advances in bioanalytical techniques to measure steroid hormones in serum.Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency.
P2860
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P2860
The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens.
description
2002 nî lūn-bûn
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2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
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@yue
2002年學術文章
@zh-hant
name
The diagnosis of congenital ad ...... sis of random urine specimens.
@en
The diagnosis of congenital ad ...... sis of random urine specimens.
@nl
type
label
The diagnosis of congenital ad ...... sis of random urine specimens.
@en
The diagnosis of congenital ad ...... sis of random urine specimens.
@nl
prefLabel
The diagnosis of congenital ad ...... sis of random urine specimens.
@en
The diagnosis of congenital ad ...... sis of random urine specimens.
@nl
P2093
P356
P1476
The diagnosis of congenital ad ...... sis of random urine specimens.
@en
P2093
Cedric H L Shackleton
Delbert A Fisher
Ewa M Malunowicz
Kenneth L Jones
Michael E Gottschalk
Michael P Caulfield
Norman F Taylor
Richard E Reitz
Thomas Lynn
P304
P356
10.1210/JCEM.87.8.8712
P407
P577
2002-08-01T00:00:00Z