Concepedia

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

Stefan Becker, S. Röhnike, Susann Empting, Dorothea Haas, Klaus Mohnike, Skadi Beblo, Ulrike Mütze, Ralf A. Husain, Joachim Thiery, Uta Ceglarek

Analytical and Bioanalytical Chemistry · 2015 · 28 citations · 15 references

DOI

Concepts

References

15

Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome

G S Tint, Mira Irons, Ellen Roy Elias et al. · New England Journal of Medicine · 1994 · 814 citations · Full text

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A newly recognized syndromeof multiple congenital anomalies

David W. Smith, Luc Lemli, John M. Opitz · The Journal of Pediatrics · 1964 · 662 citations

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Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

Richard I. Kelley · Clinica Chimica Acta · 1995 · 235 citations · Full text

, , +14

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

Elaine Tierney, Ngozi A. Nwokoro, Forbes D. Porter et al. · American Journal of Medical Genetics · 2001 · 202 citations

, , +12

Rapid quantification of free and esterified phytosterols in human serum using APPI-LC-MS/MS

Jan Lembcke, Uta Ceglarek, Martin Fiedler et al. · Journal of Lipid Research · 2004 · 150 citations · Full text

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