Genetic Disorders of Steroid Metabolism Diagnosed by Mass Spectrometry
作者： Cedric Shackleton
DOI: 10.1007/978-3-540-76698-8_26
关键词:
摘要: From a biochemical perspective most genetic disorders of steroid synthesis and metabolism are best studied by measuring individual steroids, or panels in serum, and/or producing metabolic profiles urinary steroids. There is increasing interest further developing these analyses within the field metabolomics. Classical hormones using immunoassays no longer have sensitivity accuracy demanded physicians researchers, tandem mass spectrometry rapidly taking over this role. However, gas-chromatography/ (GC/MS) still reins supreme for profiling metabolites, although may slowly change. This chapter summarises recent developments HPLC/MS techniques hormonal analysis as well providing comprehensive description use diagnosis study almost all single gene metabolism.
springer.com
sci-hub.st 参考文章(117)
CARL MONDER, H. LEON BRADLOW, Cortoic Acids: Explorations at the Frontier of Corticosteroid Metabolism Proceedings of the 1979 Laurentian Hormone Conference. ,vol. 36, pp. 345- 400 ,(1980) , 10.1016/B978-0-12-571136-4.50016-4
ROBERT L. ROSENFIELD, BARRY H. RICH, JOSEPH I. WOLFSDORF, FERNANDO CASSORLA, JOHN S. PARKS, ALFRED M. BONGIOVANNI, C.H. WU, CEDRIC H.L. SHACKLETON, Pubertal Presentation of Congenital Δ5–-3β–Hydroxysteroid Dehydrogenase Deficiency The Journal of Clinical Endocrinology and Metabolism. ,vol. 51, pp. 345- 353 ,(1980) , 10.1210/JCEM-51-2-345
Julianne Imperato-McGinley, Teofilo Gautier, Ralph E. Peterson, Cedric Shackleton, The Prevalence of 5α-Reductase Deficiency in Children with Ambiguous Genitalia in the Dominican Republic The Journal of Urology. ,vol. 136, pp. 867- 873 ,(1986) , 10.1016/S0022-5347(17)45108-1
Michael L Gross, Richard M Caprioli, None, The encyclopedia of mass spectrometry Elsevier Science. ,(2003)
Zeʹev V. Zaretskii, Mass spectrometry of steroids ,(1976)
M D Chu, S Ulick, Isolation and identification of 18-hydroxycortisol from the urine of patients with primary aldosteronism. Journal of Biological Chemistry. ,vol. 257, pp. 2218- 2224 ,(1982) , 10.1016/S0021-9258(18)34909-3
H. L. J. Makin, Biochemistry of steroid hormones Blackwell Scientific Publications , Blackwell Mosby Book Distributors. ,(1975)
Robert L Taylor, Dwaine Machacek, Ravinder J Singh, Validation of a High-Throughput Liquid Chromatography–Tandem Mass Spectrometry Method for Urinary Cortisol and Cortisone Clinical Chemistry. ,vol. 48, pp. 1511- 1519 ,(2002) , 10.1093/CLINCHEM/48.9.1511
Jennifer P. Holst, Steven J. Soldin, Rochelle E. Tractenberg, Tiedong Guo, Priya Kundra, Joseph G. Verbalis, Jacqueline Jonklaas, Use of steroid profiles in determining the cause of adrenal insufficiency Steroids. ,vol. 72, pp. 71- 84 ,(2007) , 10.1016/J.STEROIDS.2006.11.001
Anne T. Reutens, John C. Achermann, Masafumi Ito, Mika Ito, Wen-Xia Gu, Reema L. Habiby, Patricia A. Donohoue, Songya Pang, Peter C. Hindmarsh, J. Larry Jameson, Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita The Journal of Clinical Endocrinology and Metabolism. ,vol. 84, pp. 504- 511 ,(1999) , 10.1210/JCEM.84.2.5468