Barschak AG et al. |
Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle. |
2006 |
Metab Brain Dis |
pmid:16773466
|
Gordon N |
Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement. |
2005 |
Dev Med Child Neurol |
pmid:15739728
|
Read MH et al. |
Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria. |
2005 |
J. Inherit. Metab. Dis. |
pmid:16435212
|
Rinaldo P et al. |
Recent developments and new applications of tandem mass spectrometry in newborn screening. |
2004 |
Curr. Opin. Pediatr. |
pmid:15273505
|
Tiranti V et al. |
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. |
2004 |
Am. J. Hum. Genet. |
pmid:14732903
|
McGowan KA et al. |
The role of methionine in ethylmalonic encephalopathy with petechiae. |
2004 |
Arch. Neurol. |
pmid:15096407
|
Leipnitz G et al. |
Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro. |
2003 |
Neurochem. Res. |
pmid:12716029
|
Seidel J et al. |
Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. |
2003 |
J. Inherit. Metab. Dis. |
pmid:12872838
|
Fu X et al. |
Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes. |
2003 |
J. Inherit. Metab. Dis. |
pmid:12872841
|
Liang Y et al. |
[Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. |
2003 |
Zhonghua Er Ke Za Zhi |
pmid:14723814
|