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English
A new face for an old syndrome
scientific article published on 01 January 1997
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
9024554
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
editorial
0 references
title
A new face for an old syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
9024554
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
author name string
R I Kelley
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
9024554
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
publication date
1 January 1997
1 reference
stated in
Europe PubMed Central
PubMed ID
9024554
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed ID
9024554
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
volume
68
1 reference
stated in
Europe PubMed Central
PubMed ID
9024554
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
page(s)
251-256
1 reference
stated in
Europe PubMed Central
PubMed ID
9024554
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
9024554
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
cites work
Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Physical mapping of the chromosome 7 breakpoint region in an SLOS patient with t(7;20) (q32.1;q13.2).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Abnormal bile acids in the Smith-Lemli-Opitz syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Smith-Lemli-Opitz syndrome diagnosed in a 130-year-old anatomical specimen.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Hypothalamic-pituitary-gonadal function in two infants with Smith-Lemli-Opitz syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Interpretation of isolated agenesis of the pituitary
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Reproducing abnormal cholesterol biosynthesis as seen in the Smith-Lemli-Opitz syndrome by inhibiting the conversion of 7-dehydrocholesterol to cholesterol in rats
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970131%2968%3A3%3C251%3A%3AAID-AJMG1%3E3.0.CO%3B2-P
retrieved
21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19970131)68:3<251::AID-AJMG1>3.0.CO;2-P
1 reference
stated in
Europe PubMed Central
PubMed ID
9024554
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
PubMed ID
9024554
1 reference
stated in
Europe PubMed Central
PubMed ID
9024554
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9024554%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
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