Zannolli R et al. |
Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction. |
2010 |
NMR Biomed |
pmid:20187168
|
van Maldegem BT et al. |
Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency. |
2010 |
J. Inherit. Metab. Dis. |
pmid:20429031
|
Rodenburg RJ |
Biochemical diagnosis of mitochondrial disorders. |
2011 |
J. Inherit. Metab. Dis. |
pmid:20440652
|
Pedersen CB et al. |
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria. |
2010 |
J. Inherit. Metab. Dis. |
pmid:20443061
|
|
|
|
|
pmid:20528888
|
Das AM et al. |
Inborn errors of energy metabolism associated with myopathies. |
2010 |
J. Biomed. Biotechnol. |
pmid:20589068
|
Takei M et al. |
Ethylene glycol monomethyl ether-induced toxicity is mediated through the inhibition of flavoprotein dehydrogenase enzyme family. |
2010 |
Toxicol. Sci. |
pmid:20616209
|
Viscomi C et al. |
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. |
2010 |
Nat. Med. |
pmid:20657580
|
Barth M et al. |
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. |
2010 |
J. Inherit. Metab. Dis. |
pmid:20978941
|
Bosch AM et al. |
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. |
2011 |
J. Inherit. Metab. Dis. |
pmid:21110228
|
Skovran E et al. |
A systems biology approach uncovers cellular strategies used by Methylobacterium extorquens AM1 during the switch from multi- to single-carbon growth. |
2010 |
PLoS ONE |
pmid:21124828
|
Schmidt SP et al. |
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase. |
2011 |
J. Inherit. Metab. Dis. |
pmid:21170680
|
|
|
|
|
pmid:21202123
|
|
|
|
|
pmid:21203172
|
Chae JH et al. |
Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect. |
2010 |
Korean J Pediatr |
pmid:21253313
|
DiMauro S |
Pathogenesis and treatment of mitochondrial myopathies: recent advances. |
2010 |
Acta Myol |
pmid:21314015
|
|
|
|
|
pmid:21325261
|
|
|
|
|
pmid:21455846
|
Zolkipli Z et al. |
Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants. |
2011 |
PLoS ONE |
pmid:21483766
|
Doboszewski B et al. |
6-[Bis(ethoxycarbonyl)methyl]-6-deoxy-1,2;3,4-di-O-isopropyl-idene-d-galacto-pyran-ose. |
2010 |
Acta Crystallogr Sect E Struct Rep Online |
pmid:21589509
|
|
|
|
|
pmid:21689452
|
Hoffmann GF et al. |
Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia. |
1990 |
J. Inherit. Metab. Dis. |
pmid:2172644
|
Westermann CM et al. |
Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD. |
2011 |
Mol. Genet. Metab. |
pmid:21843962
|
|
|
|
|
pmid:21985395
|
Linster CL et al. |
Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading. |
2011 |
J. Biol. Chem. |
pmid:22016388
|
Amaral AU et al. |
Ethylmalonic acid impairs brain mitochondrial succinate and malate transport. |
2012 |
Mol. Genet. Metab. |
pmid:22133302
|
Gallant NM et al. |
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. |
2012 |
Mol. Genet. Metab. |
pmid:22424739
|
Dweikat I et al. |
Ethylmalonic encephalopathy associated with crescentic glomerulonephritis. |
2012 |
Metab Brain Dis |
pmid:22584649
|
|
|
|
|
pmid:22786886
|
Pavlou E et al. |
An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder. |
2013 |
J. Child Neurol. |
pmid:22805253
|
Tomlinson L et al. |
Cannabinoid receptor antagonist-induced striated muscle toxicity and ethylmalonic-adipic aciduria in beagle dogs. |
2012 |
Toxicol. Sci. |
pmid:22821849
|
Schuck PF et al. |
Ethylmalonic acid modulates Na+, K(+)-ATPase activity and mRNA levels in rat cerebral cortex. |
2013 |
Synapse |
pmid:23161776
|
Rétey J et al. |
Investigation of the mechanism of the methylmalonyl-CoA mutase reaction with the substrate analogue: ethylmalonyl-CoA. |
1978 |
Eur. J. Biochem. |
pmid:24538
|
|
|
|
|
pmid:24557940
|
|
|
|
|
pmid:25583115
|
|
|
|
|
pmid:26010931
|
O'Harte FP et al. |
Methylmalonic acid in the diagnosis of cobalt deficiency in barley-fed lambs. |
1989 |
Br. J. Nutr. |
pmid:2605162
|
Herdman MT et al. |
The role of previously unmeasured organic acids in the pathogenesis of severe malaria. |
2015 |
Crit Care |
pmid:26343146
|
Schiffer SP et al. |
Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice. |
1989 |
Biochem. Genet. |
pmid:2712823
|
|
|
|
|
pmid:27466294
|
|
|
|
|
pmid:27606686
|
Wood PA et al. |
Short-chain acyl-coenzyme A dehydrogenase deficiency in mice. |
1989 |
Pediatr. Res. |
pmid:2919115
|
Amendt BA et al. |
Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. |
1987 |
J. Clin. Invest. |
pmid:3571488
|
Harpey JP et al. |
Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency. |
1987 |
J. Pediatr. |
pmid:3585604
|
Amendt BA and Rhead WJ |
The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts. |
1986 |
J. Clin. Invest. |
pmid:3722376
|
Eastman MA et al. |
Conformation of the 18-23 loop region of bovine prothrombin in the absence and presence of a model Ca2+ ion. An energy minimization study. |
1986 |
Int. J. Pept. Protein Res. |
pmid:3733321
|
Gregersen N et al. |
Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency. Assessment of 3 years of riboflavin treatment. |
1986 |
Acta Paediatr Scand |
pmid:3751563
|
Ikeda Y et al. |
Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II. |
1986 |
J. Clin. Invest. |
pmid:3760196
|
Srb V et al. |
Cytogenetic monitoring of a 24-hour effect of ethylmalonate platinum complex on human peripheral blood lymphocytes. |
1986 |
Neoplasma |
pmid:3785467
|
Dusheiko G et al. |
Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. |
1979 |
N. Engl. J. Med. |
pmid:514320
|