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7-Dehydrocholesterol:PrThr:Pt:Amnio fld:Ord

Known as: 7-Dehydrocholesterol:AKnz:Pkt:Amnio Fl:Ord, 7-Dehidrocolesterol:Propiedad utilizada para términos LOINC cuyos resultados estan en escala categórica ordenada.:Punto temporal:Fluido Ammiótico:Ord, 7-déhydrocholestérol [Arbitraire/Volume] Liquide amniotique ; Qualitatif 
National Institutes of Health

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3 relations
7-dehydrocholesterolAmniotic FluidChemical procedure

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2004
2004
Accurate detection of Smith–Lemli–Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C-7 double bond in cultured skin fibroblasts
The activity of ergosterol Δ7-reductase (3β-hydroxysteroid Δ7-reductase) was measured in cultured skin fibroblasts from 7… 
2003
2003
Incidence of Smith‐Lemli‐Opitz syndrome in Ontario, Canada
1. The authors stated that their study is ‘‘the first prospective determination of incidence of SLOS using the biochemical… 
Highly Cited
2000
Highly Cited
2000
Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi.
The RSH or Smith-Lemli-Opitz syndrome (SLOS) is a relatively common autosomal recessive disorder of cholesterol biosynthesis… 
1999
1999
An unusual case of Smith-Lemli-Opitz syndrome and first trimester ultrasonographic exclusion in a subsequent pregnancy
The index case was referred at 25 weeks to another center because of severe oligohydramnios. Post amnioinfusion, female external… 
Highly Cited
1998
Highly Cited
1998
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.
Smith-Lemli-Opitz syndrome (SLO) is caused by inherited enzymatic deficiency of 7-dehydrocholesterol-delta7-reductase and… 
1998
1998
Relationship between abnormal cholesterol synthesis and retarded learning in rats.
Highly Cited
1995
Highly Cited
1995
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
We measured plasma sterol concentrations in 7 homozygotes with the Smith-Lemli-Opitz syndrome, 5 heterozygotes and rats treated… 
1979
1979
[Formation of 7-dehydrocholesterol ketoderivative - cholesta-4,7-dien-3-one in stomach and intestinal rat tissues].
Incorporation of [2-14C] sodium acetate into 7-dehydrocholesterol ketoderivative, cholesta-4,7-dien-3-on, was studied in the… 
1979
1979
[Formation of 7-dehydrocholesterol ketoderivative - cholesta-4,7-dien-3-one in stomach and intestinal rat tissues].
1972
1972
5. 7-Dehydrocholesterol のCholesterol への変換に及ぼすビタミンD_3の影響(英文誌抄録 掲載論文要旨)
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