Smith–Lemli–Opitz syndrome with extremely low plasma cholesterol

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Bibliographic Details
Published inJournal of inherited metabolic disease Vol. 23; no. 6; pp. 638 - 639
Main Authors Bzdúch, V., Behúlová, D., Kozák, L., Škodová, J., Véghová, E., Dello Russo, A., Corso, G., Bauer, F.
Format Journal Article
LanguageEnglish
Published Dordrecht Kluwer Academic Publishers 01.09.2000
Springer
Blackwell Publishing Ltd
Subjects
Biological and medical sciences
Cholesterol - blood
Cholesterol - deficiency
Congenital Abnormalities - genetics
Errors of metabolism
Humans
Infant, Newborn
Lipids (lysosomal enzyme disorders, storage diseases)
Male
Medical sciences
Metabolic diseases
Mutation
Oxidoreductases - genetics
Oxidoreductases Acting on CH-CH Group Donors
Polymorphism, Restriction Fragment Length
Smith-Lemli-Opitz Syndrome - blood
Smith-Lemli-Opitz Syndrome - genetics
Human
Case study
Newborn
Low
Smith Lemli Opitz dwarfism
Concentration
Cholesterol
Blood plasma
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Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1005646400244