Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline
Titel:
Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline
Auteur:
Baumgartner, Matthias R. Rabier, Daniel Nassogne, Marie-Cécile Dufier, Jean-Louis Padovani, Jean-Paul Kamoun, Pierre Valle, David Saudubray, Jean-Marie