Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients. (Q49169076)

http://europepmc.org/abstract/MED/27233227

18 February 2018

title

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients. (English)

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http://europepmc.org/abstract/MED/27233227

18 February 2018

author

Joseph P Dewulf

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27233227%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Marie-Cécile Nassogne

8

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27233227%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

Catherine Barrea

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27233227%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Marie-Françoise Vincent

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27233227%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Corinne De Laet

4

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27233227%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Rudy Van Coster

5

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27233227%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Sara Seneca

6

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27233227%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Sandrine Marie

7

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7 June 2020

publication date

13 May 2016

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http://europepmc.org/abstract/MED/27233227

18 February 2018

published in

Molecular Genetics and Metabolism

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27233227%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

118

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27233227%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

185-189

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7 June 2020

issue

3

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High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

7 June 2020

cites work

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Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

7 January 2021

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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

7 January 2021

1 reference

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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.005

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

7 January 2021

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Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.005

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.005

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

7 January 2021

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Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.005

Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.005

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

7 January 2021

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ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies

7 January 2021

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A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.005

Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.005

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.005

Riboflavin-responsive complex I deficiency

7 January 2021

1 reference

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Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.005

10.1016/J.YMGME.2016.05.005

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27233227%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

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