(Q36226348)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

title

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

author name string

Marcus J Miller

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Adam D Kennedy

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Andrea D Eckhart

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Lindsay C Burrage

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Jacob E Wulff

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Luke A D Miller

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Michael V Milburn

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

John A Ryals

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Arthur L Beaudet

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

V Reid Sutton

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

Sarah H Elsea

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

publication date

15 April 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

5 March 2020

published in

1 reference

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5 March 2020

volume

38

1 reference

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5 March 2020

issue

6

1 reference

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5 March 2020

page(s)

1029-1039

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-015-9843-7

5 March 2020

exact match

0 references

cites work

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Identification of altered metabolic pathways in plasma and CSF in mild cognitive impairment and Alzheimer's disease using metabolomics.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Intestinal microbiota metabolism of L-carnitine, a nutrient in red meat, promotes atherosclerosis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

The human serum metabolome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Organization of GC/MS and LC/MS metabolomics data into chemical libraries

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Integrated, nontargeted ultrahigh performance liquid chromatography/electrospray ionization tandem mass spectrometry platform for the identification and relative quantification of the small-molecule complement of biological systems

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Mass spectrometry for the identification of the discriminating signals from metabolomics: current status and future trends

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Inborn errors of metabolism: the flux from Mendelian to complex diseases.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Gas chromatographic-mass spectrometric urinary metabolome analysis to study mutations of inborn errors of metabolism

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Metabolomics by numbers: acquiring and understanding global metabolite data

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Inborn errors of metabolism in infancy: a guide to diagnosis

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Newborn screening for inborn errors of metabolism: a systematic review.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Metabonomics of newborn screening dried blood spot samples: a novel approach in the screening and diagnostics of inborn errors of metabolism.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Metabolomics identifies perturbations in human disorders of propionate metabolism

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Rapid measurement of total plasma homocysteine by HPLC

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4626538

Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25875217

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25875217

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-015-9843-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25875217%20AND%20SRC:MED&resulttype=core&format=json