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