Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. (Q35186364)

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10 February 2020

title

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

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10 February 2020

3

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10 February 2020

Randy Chandler

4

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10 February 2020

Nuria Carrillo-Carrasco

6

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10 February 2020

Susan A. Berry

16

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Michael D Geschwind

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10 February 2020

author name string

Jennifer L Sloan

1

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Jennifer J Johnston

2

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10 February 2020

Caitlin Krause

5

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10 February 2020

Suma D Chandrasekaran

7

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Justin R Sysol

8

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10 February 2020

Kevin O'Brien

9

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Natalie S Hauser

10

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Julie C Sapp

11

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Heidi M Dorward

12

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Marjan Huizing

13

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10 February 2020

NIH Intramural Sequencing Center Group

14

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10 February 2020

Bruce A Barshop

15

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Philip M James

17

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Neena L Champaigne

18

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Pascale de Lonlay

19

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Vassilli Valayannopoulos

20

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Dimitar K Gavrilov

22

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William L Nyhan

23

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Charles P Venditti

25

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Leslie G Biesecker

24

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language of work or name

English

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publication date

14 August 2011

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10 February 2020

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10 February 2020

volume

43

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issue

9

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10 February 2020

page(s)

883-886

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

10 February 2020

exact match

0 references

cites work

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

13 July 2018

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

13 July 2018

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

13 July 2018

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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

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

13 July 2018

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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

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Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy.

13 July 2018

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

13 July 2018

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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

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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

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inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.908

1 reference

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10 February 2020

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10 February 2020

1 reference