Abstract | BACKGROUND: METHODS: Gas chromatography/mass spectrometry was used to obtain sterol profiles in plasma and erythrocyte membranes of suspected patients. RESULTS: CONCLUSIONS: The results of this study may be helpful for diagnosis and interpretation of data in patients with findings suggestive of a cholesterol biosynthesis defect.
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Authors | Gaetano Corso, Monica Gelzo, Rosalba Barone, Stefano Clericuzio, Pierluigi Pianese, Angela Nappi, Antonio Dello Russo |
Journal | Clinical chemistry and laboratory medicine
(Clin Chem Lab Med)
Vol. 49
Issue 12
Pg. 2039-46
(Aug 24 2011)
ISSN: 1437-4331 [Electronic] Germany |
PMID | 21864209
(Publication Type: Journal Article)
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Chemical References |
- Dehydrocholesterols
- Cholesterol
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Topics |
- Adolescent
- Child
- Child, Preschool
- Cholesterol
(analysis, blood)
- Chondrodysplasia Punctata
(blood, diagnosis)
- Dehydrocholesterols
(analysis, blood)
- Erythrocyte Membrane
(chemistry)
- Female
- Follow-Up Studies
- Gas Chromatography-Mass Spectrometry
- Genetic Diseases, X-Linked
(blood, diagnosis)
- Humans
- Incidence
- Infant
- Infant, Newborn
- Male
- Smith-Lemli-Opitz Syndrome
(blood, diagnosis, epidemiology)
- Young Adult
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