LC–MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism-Reference-Cited by-同舟云学术

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LC–MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism

Published:2015-05-12 Issue:17 Volume:407 Page:5227-5233
ISSN:1618-2642
Container-title:Analytical and Bioanalytical Chemistry
language:en
Short-container-title:Anal Bioanal Chem

Author:

Becker S.,Röhnike S.,Empting S.,Haas D.,Mohnike K.,Beblo S.,Mütze U.,Husain R. A.,Thiery J.,Ceglarek U.

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry,Analytical Chemistry

Link

http://link.springer.com/content/pdf/10.1007/s00216-015-8731-1.pdf

Reference19 articles.

1. Smith DW, Lemli L, Opitz JM (1964) A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64:210–217

2. Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF (1995) Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes. J Clin Invest 96(4):1779–1785. doi: 10.1172/JCI118223

3. Nowaczyk MJ, Waye JS (2001) The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. Clin Genet 59(6):375–386

4. Waye JS, Nakamura LM, Eng B, Hunnisett L, Chitayat D, Costa T, Nowaczyk MJ (2002) Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. J Med Genet 39(6):E31

5. Witsch-Baumgartner M, Sawyer H, Haas D (2013) Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]. Eur J Hum Genet 21 (8). doi: 10.1038/ejhg.2012.255

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