Back to the Subject ListUnited Mitochondrial Disease Foundation
We welcome any suggested additions to our list.
Last updated: 26-Jun-98
REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers
Athappilly ; FK ; 3152* ; Structure of the biotinyl domain of acetyl-coenzyme A carboxylase determined by MAD phasing. ; Structure ; 1995 ; 3(12) ; 1407-1419
Halperin ; ML ; 998 ; Lactic acidosis, ketoacidosis, and energy turnover: "figure" you made the correct diagnosis only when you have "counted" on it--quantitative analysis based on principles of metabolism. ; Mount Sinai Journal of Medicine ; 1992 ; 59(1) ; 1-12
Ip ; WC ; 3566 ; Neonatal multiple acyl-CoA dehydrogenase deficiency: essentially absent fatty acid oxidation activity in proband but normal activity in parental cultured skin fibroblasts. ; J Inherit Metab Dis ; 1996 ; 19(3) ; 379-380
Leone ; TC ; 2322* ; The human medium chain Acyl-CoA dehydrogenase gene promoter consists of a complex arrangement of nuclear receptor response elements and Sp1 binding sites. ; Journal of Biological Chemistry ; 1995 ; 270(27) ; 16308-14
Onkenhout ; W ; 2316* ; Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders. ; Clinical Chemistry ; 1995 ; 41(10) ; 1467-74
Parini ; R ; 3923* ; Sudden infant death and multiple acyl-CoA dehydrogenation disorders ; Eur J Pediatr ; 1995 ; 154(5) ; 421-422
Roettger ; V ; 2770 ; Multiple acyl-coenzyme A dehydrogenation disorders (MAD) responsive to riboflavin: biochemical studies in fibroblasts. ; Prog Clin Biol Res ; 1992 ; 375 ; 317-26
Whitfield ; J ; 4252 ; Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism. ; Am J Perinatol ; 1996 ; 13(3) ; 131-134