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cholesta-5,8-dien-3 beta-ol
Known as:
8-dehydrocholesterol
National Institutes of Health
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1 relation
Broader (1)
Cholestadienols
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus.
André M. Travessa
,
P. Dias
,
P. Rocha
,
A. Sousa
Taiwanese Journal of Obstetrics & Gynecology
2017
Corpus ID: 10997883
2015
2015
LC–MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism
S. Becker
,
S. Röhnike
,
+7 authors
U. Ceglarek
Analytical and Bioanalytical Chemistry
2015
Corpus ID: 21970676
Smith–Lemli–Opitz syndrome (SLOS) is an inherited metabolic disease in the cholesterol biosynthesis pathway which is…
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2014
2014
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome
S. Sparks
,
C. Wassif
,
+7 authors
F. Porter
Journal of Inherited Metabolic Disease
2014
Corpus ID: 13777043
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome with cognitive impairment and a…
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2012
2012
Stability study of dehydrocholesterols in dried spot of blood from patients with Smith-Lemli-Opitz syndrome, using filter-paper treated with butylated hydroxytoluene.
M. Gelzo
,
Antonio Dello Russo
,
G. Corso
Clinica chimica acta; international journal of…
2012
Corpus ID: 27235911
2008
2008
Precholesterol Sterols Accumulate in Lipid Rafts of Patients with Smith-Lemli-Opitz Syndrome and X-Linked Dominant Chondrodysplasia Punctata
D. Rakheja
,
R. Boriack
Pediatric and Developmental Pathology
2008
Corpus ID: 2191061
Systemic fetal dysmorphogenesis in disorders of postsqualene cholesterol biosynthesis is thought to be caused by disruption of…
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2002
2002
Effects of sample storage on 7- and 8-dehydrocholesterol levels analysed on whole blood spots by gas chromatography-mass spectrometry-selected ion monitoring.
G. Corso
,
M. Rossi
,
B. D. De
,
I. Rossi
,
G. Parenti
,
R. Dello
Journal of chromatography. B, Analytical…
2002
Corpus ID: 4556967
2000
2000
Cholesterol metabolsim defect associated with Conradi–Hunerman–Happle syndrome
E. Dipreta
,
Kathleen J. Smith
,
H. Skelton
International Journal of Dermatology
2000
Corpus ID: 45893662
We present a 6‐week‐old black girl with Conradi–Hunerman–Happle syndrome (CHS). The mother had no past medical history of illness…
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2000
2000
Diagnosis of Smith–Lemli–Opitz syndrome from stored filter paper blood specimens
Lena Starck
,
A. Lovgren
Archives of Disease in Childhood
2000
Corpus ID: 13999905
BACKGROUND Smith–Lemli–Opitz (SLO) syndrome is a recessively inheritable metabolic disease with deficiency of cholesterol and…
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2000
2000
Regulation of cholesterol biosynthetic pathway in patients with the Smith–Lemli–Opitz syndrome
M. Honda
,
G. Tint
,
+5 authors
Naomi Tanaka
Journal of Inherited Metabolic Disease
2000
Corpus ID: 23979509
The Smith–Lemli–Opitz syndrome (SLOS) is a recessively inherited birth disorder caused by a defect in 7-dehydrocholesterol (3…
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Highly Cited
1995
Highly Cited
1995
Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome.
A. Batta
,
G. Tint
,
S. Shefer
,
Dianne N. Abuelo
,
Gerald Salen
Journal of Lipid Research
1995
Corpus ID: 45251224
Cholesta-5,8-dien-3 beta-ol (8-dehydrocholesterol) and cholesta-5,7-dien-3 beta-ol (7-dehydrocholesterol) were isolated from the…
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