(Q36869383)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Potential of sterol analysis by liquid chromatography-tandem mass spectrometry for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

liquid chromatography-tandem mass spectrometry

9 January 2020

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Yuqin Wang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

Kersti Karu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Emmanuel Samuel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Shane McDonnell

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Martin Hornshaw

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Cedric Shackleton

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

language of work or name

English

0 references

publication date

12 June 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

page(s)

1317-1324

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

9 January 2020

liquid chromatography-tandem mass spectrometry

1 reference

Liquid chromatography-mass spectrometry utilizing multi-stage fragmentation for the identification of oxysterols.

inferred from title

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533047

Analysis of oxysterols by electrospray tandem mass spectrometry

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533047

Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533047

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533047

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533047

Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533047

A rapid screening procedure for cholesterol and dehydrocholesterol by electrospray ionization tandem mass spectrometry

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533047

Fetal Smith-Lemli-Opitz syndrome can be detected accurately and reliably by measuring amniotic fluid dehydrocholesterols.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533047

Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533047

Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533047

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2533047

High-throughput urine screening for Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometry

4 September 2018

1 reference

12 December 2020

Capillary liquid chromatography/electrospray mass spectrometry for analysis of steroid sulfates in biological samples

1 reference

12 December 2020

Smith-Lemli-Opitz syndrome diagnosed by using time-of-flight secondary-ion mass spectrometry

1 reference

12 December 2020

Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Prenatal diagnosis of Smith-Lemli-Opitz syndrome is possible by measurement of 7-dehydrocholesterol in amniotic fluid

1 reference

12 December 2020

First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)

1 reference

12 December 2020

Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry

1 reference

12 December 2020

First-trimester diagnosis of Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Prenatal diagnosis of Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

10.1373/CLINCHEM.2007.100644

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18556335%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

PubMed publication ID

18556335

1 reference