MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
|
30025539 |
2018 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.
|
28529009 |
2017 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.
|
26669660 |
2016 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
|
26741492 |
2016 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rhabdomyolysis: a genetic perspective.
|
25929793 |
2015 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.
|
25721401 |
2015 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.
|
23996478 |
2014 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
|
25326637 |
2014 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.
|
23836383 |
2013 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
|
22499348 |
2012 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
|
20929961 |
2011 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
|
21057504 |
2010 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
|
20816094 |
2010 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
|
21057504 |
2010 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
|
17564966 |
2007 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
|
17564966 |
2007 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
|
17564966 |
2007 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|