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Title
Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.
Authors
Baumgartner MR; Hu CA; Almashanu S; Steel G; Obie C; Aral B; Rabier D; Kamoun P; Saudubray JM; Valle D
Publication
Human molecular genetics, 2000, Vol 9, Issue 19, p2853