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Results: 1-3 |
Results: 3
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
Authors: Baumgartner, MR Almashanu, S Suormala, T Obie, C Cole, RN Packman, S Baumgartner, ER Valle, D
Citation: Mr. Baumgartner et al., The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency, J CLIN INV, 107(4), 2001, pp. 495-504
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: anew inborn error caused by a mutation in the gene encoding Delta(1)-pyrroline-5-carboxylate synthase
Authors: Baumgartner, MR Hu, CAA Almashanu, S Steel, G Obie, C Aral, B Rabier, D Kamoun, P Saudubray, JM Valle, D
Citation: Mr. Baumgartner et al., Hyperammonemia with reduced ornithine, citrulline, arginine and proline: anew inborn error caused by a mutation in the gene encoding Delta(1)-pyrroline-5-carboxylate synthase, HUM MOL GEN, 9(19), 2000, pp. 2853-2858
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused bymutations in a gene encoding a mitochondrial ornithine transporter
Authors: Camacho, JA Obie, C Biery, B Goodman, BK Hu, CA Almashanu, S Steel, G Casey, R Lambert, M Mitchell, GA Valle, D
Citation: Ja. Camacho et al., Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused bymutations in a gene encoding a mitochondrial ornithine transporter, NAT GENET, 22(2), 1999, pp. 151-158
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