(Q35186364)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21841779%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

title

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria (English)

1 reference

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10 February 2020

3

1 reference

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10 February 2020

Randy Chandler

4

1 reference

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10 February 2020

Nuria Carrillo-Carrasco

6

1 reference

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10 February 2020

Susan A. Berry

16

1 reference

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10 February 2020

21

Michael D Geschwind

1 reference

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10 February 2020

author name string

Jennifer L Sloan

1

1 reference

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10 February 2020

Jennifer J Johnston

2

1 reference

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10 February 2020

Caitlin Krause

5

1 reference

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10 February 2020

Suma D Chandrasekaran

7

1 reference

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10 February 2020

Justin R Sysol

8

1 reference

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10 February 2020

Kevin O'Brien

9

1 reference

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10 February 2020

Natalie S Hauser

10

1 reference

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10 February 2020

Julie C Sapp

11

1 reference

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10 February 2020

Heidi M Dorward

12

1 reference

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10 February 2020

Marjan Huizing

13

1 reference

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10 February 2020

NIH Intramural Sequencing Center Group

14

1 reference

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10 February 2020

Bruce A Barshop

15

1 reference

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10 February 2020

Philip M James

17

1 reference

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10 February 2020

Neena L Champaigne

18

1 reference

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10 February 2020

Pascale de Lonlay

19

1 reference

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10 February 2020

Vassilli Valayannopoulos

20

1 reference

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10 February 2020

Dimitar K Gavrilov

22

1 reference

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10 February 2020

William L Nyhan

23

1 reference

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10 February 2020

Charles P Venditti

25

1 reference

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10 February 2020

Leslie G Biesecker

24

1 reference

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10 February 2020

language of work or name

English

0 references

publication date

14 August 2011

1 reference

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10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21841779%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

volume

43

1 reference

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10 February 2020

issue

9

1 reference

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10 February 2020

page(s)

883-886

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng.908

10 February 2020

exact match

0 references

cites work

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163731

Mitochondrial fatty acid synthesis--an adopted set of enzymes making a pathway of major importance for the cellular metabolism.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163731

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163731

Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163731

Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163731

Identification of active-site residues in Bradyrhizobium japonicum malonyl-coenzyme A synthetase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163731

A gene cluster encoding malonyl-CoA decarboxylase (MatA), malonyl-CoA synthetase (MatB) and a putative dicarboxylate carrier protein (MatC) in Rhizobium trifolii--cloning, sequencing, and expression of the enzymes in Escherichia coli

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163731

Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163731

Mutational analysis of a fatty acyl-coenzyme A synthetase signature motif identifies seven amino acid residues that modulate fatty acid substrate specificity.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163731

Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3163731

Fatty acid transport in Saccharomyces cerevisiae. Directed mutagenesis of FAT1 distinguishes the biochemical activities associated with Fat1p

13 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.908

Mutational analysis of 4-coumarate:CoA ligase identifies functionally important amino acids and verifies its close relationship to other adenylate-forming enzymes

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21841779

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21841779

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.908

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21841779%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21841779%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

PubMed publication ID

21841779

1 reference