United Mitochondrial Disease Foundation
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Last updated: 26-Jun-98
REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers
Andresen ; BS ; 2347* ; A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD). ; 1993 ; 53(3) ; 730-9
Arden ; KC ; 3142* ournal of Human Genetics ; Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. ; Genomics ; 1995 ; 25(3) ; 743-745
Babidge ; W ; 5695 ; Sulfides impair short chain fatty acid beta-oxidation at acyl-CoA dehydrogenase level in colonocytes: implications for ulcerative colitis. ; Mol Cell Biochem ; 1998 ; 181(1-2) ; 117-24
Baerlocher ; KE ; 5696 ; Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis. ; J Inherit Metab Dis ; 1997 ; 20(3) ; 427-31
Battaile ; KP ; 5709 ; Functional role of the active site glutamate-368 in rat short chain acyl-CoA dehydrogenase. ; Biochemistry ; 1996 ; 35(48) ; 15356-63
Bhala ; A ; 3206 ; Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. ; J Pediatr ; 1995 ; 126(6) ; 910-915
Bove ; KE ; 5736 ; The metabolic crisis: a diagnostic challenge [editoria; comment] ; J Pediatr ; 1997 ; 131(2) ; 181-2
Coates ; PM ; 2334* ; New developments in the diagnosis and investigation of mitochondrial fatty acid oxidation disorders. [Review] ; European Journal of Pediatrics ; 1994 ; 153(7 Suppl 1) ; S49-56
Corydon ; TJ ; 5794 ; Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria [In Process Citation] ; J Biol Chem ; 1998 ; 273(21) ; 13065-71
Corydon ; MJ ; 3317 ; Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. ; Pediatr Res ; 1996 ; 39(6) ; 1059-1066
Corydon ; MJ ; 5793 ; Structural organization of the human short-chain acyl-CoA dehydrogenase gene. ; Mamm Genome ; 1997 ; 8(12) ; 922-6
Dakoji ; S ; 5801 ; Redesigning the active-site of an acyl-CoA dehydrogenase: new evidence supporting a one-base mechanism. ; Bioorg Med Chem ; 1997 ; 5(12) ; 2157-64
Eder ; M ; 5835 ; Characterization of human and pig kidney long-chain-acyl-CoA dehydrogenases and their role in beta-oxidation. ; Eur J Biochem ; 1997 ; 245(3) ; 600-7
Fabrizi ; F ; 3403 ; Intradialytic calcium balances with different calcium dialysate levels. Effects on cardiovascular stability and parathyroid function. ; Nephron ; 1996 ; 72(4) ; 530-535
Flath ; B ; 5854 ; Simple high-performance liquid chromatographic method for the detection of phenylpropionylglycine in urine as a diagnostic tool in inherited medium-chain acyl-coenzyme A dehydrogenase deficiency. ; J Chromatogr B Biomed Sci Appl ; 1997 ; 694(1) ; 227-32
Fontaine ; M ; 5858 ; Acylcarnitine removal in a patient with acyl-CoA beta-oxidation deficiency disorder: effect of L-carnitine therapy and starvation. ; Clin Chim Acta ; 1996 ; 252(2) ; 109-22
Gabrielli ; F ; 3437 ; A nuclear protein, synthesized in growth-arrested human hepatoblastoma cells, is a novel member of the short-chain alcohol dehydrogenase family. ; Eur J Biochem ; 1995 ; 232(2) ; 473-477
Gregersen ; N ; 5890 ; 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 ; Hum Mol Genet ; 1998 ; 7(4) ; 619-27
Jakobs ; C ; 5949 ; In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique. ; Eur J Pediatr ; 1997 ; 156 Suppl 1 ; S78-82
Kelly ; CL ; 5971 ; Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficiencies. ; Hum Mol Genet ; 1997 ; 6(9) ; 1451-5
Macheroux ; P ; 6033 ; Medium-chain acyl CoA dehydrogenase: evidence for phosphorylation. ; Biol Chem ; 1997 ; 378(11) ; 1381-5
Ribes ; A ; 6184 ; Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency [In Process Citation] ; Eur J Pediatr ; 1998 ; 157(4) ; 317-20
Seddon ; HR ; 6223 ; Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system. ; Clin Chem ; 1997 ; 43(3) ; 436-42
Soliman ; MS ; 6257 ; Evidence against peroxisome proliferation-induced hepatic oxidative damage. ; Biochem Pharmacol ; 1997 ; 53(9) ; 1369-74
Stanley ; CA ; 6274 ; Dissecting the spectrum of fatty acid oxidation disorders [editorial; comment] ; J Pediatr ; 1998 ; 132(3 Pt 1) ; 384-6
Tiffany ; KA ; 6323 ; Structure of human isovaleryl-CoA dehydrogenase at 2.6 A resolution: structural basis for substrate specificity,. ; Biochemistry ; 1997 ; 36(28) ; 8455-64
Vega ; RB ; 6342 ; A role for estrogen-related receptor alpha in the control of mitochondrial fatty acid beta-oxidation during brown adipocyte differentiation. ; J Biol Chem ; 1997 ; 272(50) ; 31693-9