(Q53145595)

English

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

scientific article published on 20 July 2017

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Adeline Vanderver

21

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Thaís Armangue

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

9

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

11

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Keith van Haren

14

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Heather Gordish-Dressman

10

object named as

Heather Gordish-Dressman

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

author name string

Joseph J Orsini

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Asako Takanohashi

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Francesco Gavazzi

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Alex Conant

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Nicole Ulrick

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Mark A Morrissey

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Norah Nahhas

8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Davide Tonduti

12

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Chloe Stutterd

13

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Camilo Toro

15

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Alejandro D Iglesias

16

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Marjo S van der Knaap

17

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Raphaela Goldbach Mansky

18

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Anne B Moser

19

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Richard O Jones

20

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

publication date

20 July 2017

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

122

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

134-139

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Phospholipidomic Analysis Reveals Changes in Sphingomyelin and Lysophosphatidylcholine Profiles in Plasma from Patients with Neuroborreliosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Type I Interferons Function as Autocrine and Paracrine Factors to Induce Autotaxin in Response to TLR Activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Case definition and classification of leukodystrophies and leukoencephalopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Therapies in Aicardi-Goutières syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Endogenous retroelements and autoimmune disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Prenatal diagnosis of Aicardi-Goutières syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Quantitative determination of plasma c8-c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

The gross motor function classification system for cerebral palsy: a study of reliability and stability over time

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Aicardi-Goutières syndrome: an update and results of interferon-alpha studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Lysosomes of the arterial wall. I. Isolation and subcellular fractionation of cells from normal rabbit aorta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

25 August 2018

Elevated Interferon-Alpha in Fetal Blood in the Prenatal Diagnosis of Aicardi-Goutières Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5722655

30 November 2018

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.07.006

7 January 2021

Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.07.006

7 January 2021

Identifiers

10.1016/J.YMGME.2017.07.006

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

release_d4rcqw2cuja4hkvi63hzikssba

1 reference

https://api.fatcat.wiki/v0/release/d4rcqw2cuja4hkvi63hzikssba

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28739201%20AND%20SRC:MED&resulttype=core&format=json

25 March 2020

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q53145595&oldid=2085402636"