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Results: 1-3 |
Results: 3
Medium-chain Acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-Based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
Authors: Andresen, BS Dobrowolski, SF O'Reilly, L Muenzer, J McCandless, SE Frazier, DM Udvari, S Bross, P Knudsen, I Banas, R Chace, DH Engel, P Naylor, EW Gregersen, N
Citation: Bs. Andresen et al., Medium-chain Acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-Based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency, AM J HU GEN, 68(6), 2001, pp. 1408-1418
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoAdehydrogenase deficiency: Identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenasesin isoleucine and valine metabolism
Authors: Andresen, BS Christensen, E Corydon, TJ Bross, P Pilgaard, B Wanders, RJA Ruiter, JPN Simonsen, H Winter, V Knudsen, I Schroeder, LD Gregersen, N Skovby, F
Citation: Bs. Andresen et al., Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoAdehydrogenase deficiency: Identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenasesin isoleucine and valine metabolism, AM J HU GEN, 67(5), 2000, pp. 1095-1103
Temporal equivalence between test species and humans: General toxicity issues
Authors: Knudsen, I
Citation: I. Knudsen, Temporal equivalence between test species and humans: General toxicity issues, REGUL TOX P, 30(2), 1999, pp. S42-S47
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