Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
14 patients with EE were investigated for mutations in the ETHE1 gene.
|
18593870 |
2008 |
Ethylmalonic encephalopathy
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
14 patients with EE were investigated for mutations in the ETHE1 gene.
|
18593870 |
2008 |
Ethylmalonic encephalopathy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
14 patients with EE were investigated for mutations in the ETHE1 gene.
|
18593870 |
2008 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
|
18593870 |
2008 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
14 patients with EE were investigated for mutations in the ETHE1 gene.
|
18593870 |
2008 |
Ethylmalonic encephalopathy
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
14 patients with EE were investigated for mutations in the ETHE1 gene.
|
18593870 |
2008 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the ETHE1 gene demonstrated homozygosity for the Arg163Gly mutation, confirming the diagnosis of EE at a molecular level.
|
17712735 |
2007 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
No ETHE1 mutations were identified in non-EE EMA patients.
|
16183799 |
2006 |
Ethylmalonic encephalopathy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.
|
16828325 |
2006 |
Ethylmalonic encephalopathy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
ETHE1 mutations are specific to ethylmalonic encephalopathy.
|
16183799 |
2006 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
However, given its role in EE, the name of the gene has been changed to "ETHE1."
|
14732903 |
2004 |
Ethylmalonic encephalopathy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
However, given its role in EE, the name of the gene has been changed to "ETHE1."
|
14732903 |
2004 |
Ethylmalonic encephalopathy
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
However, given its role in EE, the name of the gene has been changed to "ETHE1."
|
14732903 |
2004 |
Ethylmalonic encephalopathy
|
1.000 |
Biomarker
|
disease |
BEFREE |
However, given its role in EE, the name of the gene has been changed to "ETHE1."
|
14732903 |
2004 |
Ethylmalonic encephalopathy
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Ethylmalonic encephalopathy
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Leigh Disease
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.
|
27830356 |
2017 |
Leigh Disease
|
0.300 |
Biomarker
|
disease |
CLINGEN |
AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.
|
28753212 |
2017 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.
|
27830356 |
2017 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker
|
disease |
CLINGEN |
AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.
|
28753212 |
2017 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.
|
27830356 |
2017 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.
|
28753212 |
2017 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.
|
28753212 |
2017 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.
|
27830356 |
2017 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.
|
27830356 |
2017 |