(Q34199647)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference

2

1 reference

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7 March 2020

author name string

S E Sparks

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

H Goodwin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

S K Conley

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

D C Lanham

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

L E Kratz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

K Hyland

7

1 reference

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7 March 2020

A Gropman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

E Tierney

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

F D Porter

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

publication date

6 February 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

7 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

volume

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

issue

3

1 reference

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7 March 2020

page(s)

415-420

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10545-013-9672-5

7 March 2020

exact match

0 references

cites work

Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Cholesterol and synaptic vesicle exocytosis

5 July 2018

1 reference

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Sphingolipid/cholesterol regulation of neurotransmitter receptor conformation and function.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin(1A) receptor: implications in SLOS.

5 July 2018

1 reference

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Making and breaking serotonin neurons and autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Normal cognition and behavior in a Smith‐Lemli‐Opitz syndrome patient who presented with Hirschsprung disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

The Smith-Lemli-Opitz syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Cerebrospinal fluid levels of homovanillic acid and 5-hydroxyindoleacetic acid in autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Relationship between head circumference and brain volume in healthy normal toddlers, children, and adults.

5 July 2018

1 reference

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MRI and 1H�MRS findings in Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

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Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

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Molecular modeling of the human serotonin(1A) receptor: role of membrane cholesterol in ligand binding of the receptor

21 January 2018

1 reference

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Chronic cholesterol depletion using statin impairs the function and dynamics of human serotonin(1A) receptors

21 January 2018

1 reference

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Cholesterol reduction attenuates 5-HT1A receptor-mediated signaling in human primary neuronal cultures.

21 January 2018

1 reference

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Association of cerebrospinal fluid deficiency of 5-methyltetrahydrofolate, but not S-adenosylmethionine, with reduced concentrations of the acid metabolites of 5-hydroxytryptamine and dopamine.

21 January 2018

1 reference

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Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

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Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature

21 January 2018

1 reference

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Marked alteration of sterol metabolism and composition without compromising retinal development or function.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population

28 October 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9672-5

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4166510

Psychometric characteristics of the aberrant behavior checklist

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24500076

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-013-9672-5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24500076%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

PubMed publication ID

24500076

1 reference