Pedersen CB et al. |
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. |
2008 |
Hum. Genet. |
pmid:18523805
|
Gregersen N et al. |
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. |
1998 |
Hum. Mol. Genet. |
pmid:9499414
|
Kristensen MJ et al. |
Amino acid polymorphism (Gly209Ser) in the ACADS gene. |
1994 |
Hum. Mol. Genet. |
pmid:7833941
|
Ballard CG et al. |
Eating disorder in a 6-year-old Asian girl with ethyl malonic adipic aciduria. |
1993 |
Int J Eat Disord |
pmid:8477295
|
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
|
Linster CL et al. |
Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading. |
2011 |
J. Biol. Chem. |
pmid:22016388
|
Das AM et al. |
Inborn errors of energy metabolism associated with myopathies. |
2010 |
J. Biomed. Biotechnol. |
pmid:20589068
|
Okuyaz C et al. |
Severe infantile hypotonia with ethylmalonic aciduria: case report. |
2008 |
J. Child Neurol. |
pmid:18539996
|
Pavlou E et al. |
An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder. |
2013 |
J. Child Neurol. |
pmid:22805253
|
Amendt BA et al. |
Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. |
1987 |
J. Clin. Invest. |
pmid:3571488
|
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
|
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
|
Elias E et al. |
Ethylmalonic adipic aciduria--a treatable hepatomuscular disorder in two adult brothers. |
1997 |
J. Hepatol. |
pmid:9059968
|
Bross P et al. |
Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential. |
2007 |
J. Hum. Genet. |
pmid:17072495
|
Lehnert W and Ruitenbeek W |
Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency. |
1993 |
J. Inherit. Metab. Dis. |
pmid:7609451
|
Garavaglia B et al. |
Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype. |
1994 |
J. Inherit. Metab. Dis. |
pmid:7807937
|
Yoon HR et al. |
Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin. |
2001 |
J. Inherit. Metab. Dis. |
pmid:11916321
|
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
|
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
|
Barth M et al. |
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. |
2010 |
J. Inherit. Metab. Dis. |
pmid:20978941
|
Pedersen CB et al. |
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria. |
2010 |
J. Inherit. Metab. Dis. |
pmid:20443061
|
Merinero B et al. |
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. |
2006 |
J. Inherit. Metab. Dis. |
pmid:16906473
|
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
|
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
|
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
|
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
|
Sack I and Vega S |
Efficient deuterium-carbon REDOR NMR spectroscopy. |
2000 |
J. Magn. Reson. |
pmid:10873496
|
Tiranti V et al. |
ETHE1 mutations are specific to ethylmalonic encephalopathy. |
2006 |
J. Med. Genet. |
pmid:16183799
|
Grosso S et al. |
Ethylmalonic encephalopathy: further clinical and neuroradiological characterization. |
2002 |
J. Neurol. |
pmid:12382164
|
Burlina AB et al. |
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. |
1994 |
J. Pediatr. |
pmid:8283379
|
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
|
van Maldegem BT et al. |
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. |
2006 |
JAMA |
pmid:16926354
|
Chae JH et al. |
Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect. |
2010 |
Korean J Pediatr |
pmid:21253313
|
Burlina A et al. |
New clinical phenotype of branched-chain acyl-CoA oxidation defect. |
1991 |
Lancet |
pmid:1683940
|
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
|
Ferreira Gda C et al. |
Effect of in vivo administration of ethylmalonic acid on energy metabolism in rat tissues. |
2006 |
Metab Brain Dis |
pmid:16773468
|
Dweikat I et al. |
Ethylmalonic encephalopathy associated with crescentic glomerulonephritis. |
2012 |
Metab Brain Dis |
pmid:22584649
|
Nowaczyk MJ et al. |
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. |
1998 |
Metab. Clin. Exp. |
pmid:9667231
|
Amaral AU et al. |
Ethylmalonic acid impairs brain mitochondrial succinate and malate transport. |
2012 |
Mol. Genet. Metab. |
pmid:22133302
|
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
|
Di Rocco M et al. |
A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. |
2006 |
Mol. Genet. Metab. |
pmid:16828325
|
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
|
Dusheiko G et al. |
Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. |
1979 |
N. Engl. J. Med. |
pmid:514320
|
Tiranti V et al. |
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. |
2009 |
Nat. Med. |
pmid:19136963
|
Viscomi C et al. |
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. |
2010 |
Nat. Med. |
pmid:20657580
|
Srb V et al. |
Cytogenetic monitoring of a 24-hour effect of ethylmalonate platinum complex on human peripheral blood lymphocytes. |
1986 |
Neoplasma |
pmid:3785467
|
Leipnitz G et al. |
Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro. |
2003 |
Neurochem. Res. |
pmid:12716029
|
Schuck PF et al. |
Promotion of lipid and protein oxidative damage in rat brain by ethylmalonic acid. |
2010 |
Neurochem. Res. |
pmid:19757035
|