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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
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National Institutes of Health
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Related topics
Related topics
3 relations
7-dehydrocholesterol
Amniotic Fluid
Chemical 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
M. Honda
,
G. Tint
,
+5 authors
G. Salen
Journal of Inherited Metabolic Disease
2004
Corpus ID: 6179278
The activity of ergosterol Δ7-reductase (3β-hydroxysteroid Δ7-reductase) was measured in cultured skin fibroblasts from 7…
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2001
2001
Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada.
M. Nowaczyk
,
D. McCaughey
,
D. Whelan
,
F. Porter
American journal of medical genetics
2001
Corpus ID: 9132827
Smith-Lemli-Opitz syndrome (OMIM 270400) (SLOS) is caused by inherited enzymatic deficiency of 3beta-hydroxysterol-Delta7…
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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.
H. Yu
,
G. Tint
,
G. Salen
,
S. Patel
American journal of medical genetics
2000
Corpus ID: 25234932
The RSH or Smith-Lemli-Opitz syndrome (SLOS) is a relatively common autosomal recessive disorder of cholesterol biosynthesis…
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1999
1999
An unusual case of Smith-Lemli-Opitz syndrome and first trimester ultrasonographic exclusion in a subsequent pregnancy
R. M. Roberts
,
R. J. Kelleys
Genetics in Medicine
1999
Corpus ID: 45338186
The index case was referred at 25 weeks to another center because of severe oligohydramnios. Post amnioinfusion, female external…
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Highly Cited
1998
Highly Cited
1998
Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.
M. Nowaczyk
,
D. Whelan
,
R. Hill
American journal of medical genetics
1998
Corpus ID: 24894088
Smith-Lemli-Opitz syndrome (SLO) is caused by inherited enzymatic deficiency of 7-dehydrocholesterol-delta7-reductase and…
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1998
1998
Relationship between abnormal cholesterol synthesis and retarded learning in rats.
G. Xu
,
R. Servatius
,
+4 authors
G. Salen
Metabolism: clinical and experimental
1998
Corpus ID: 1104534
We examined the relationship between brain sterol composition and associative learning (classical conditioning of the eyeblink…
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Highly Cited
1995
Highly Cited
1995
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome.
G. Salen
,
G. Tint
,
G. Xu
,
A. Batta
,
M. Irons
,
E. Elias
The Italian journal of gastroenterology
1995
Corpus ID: 19391545
We measured plasma sterol concentrations in 7 homozygotes with the Smith-Lemli-Opitz syndrome, 5 heterozygotes and rats treated…
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1979
1979
[Formation of 7-dehydrocholesterol ketoderivative - cholesta-4,7-dien-3-one in stomach and intestinal rat tissues].
I. A. Nikolenko
,
R. P. Morozova
,
V. P. Vendt
Ukrainskii biokhimicheskii zhurnal
1979
Corpus ID: 43314303
Incorporation of [2-14C] sodium acetate into 7-dehydrocholesterol ketoderivative, cholesta-4,7-dien-3-on, was studied in the…
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1979
1979
[Formation of 7-dehydrocholesterol ketoderivative - cholesta-4,7-dien-3-one in stomach and intestinal rat tissues].
Nikolenko Ia
,
Morozova Rp
,
Vendt Vp
1979
Corpus ID: 89278571
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)
森内 幸子
,
高瀬 幸子
,
大泉 久美子
,
細谷 憲政
1972
Corpus ID: 83429472
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