Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline (Q28290796)

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Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline
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    Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline (English)
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    Matthias R Baumgartner
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    Daniel Rabier
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    Jean-Paul Padovani
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    Pierre Kamoun
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    David Valle
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    Jean-Marie Saudubray
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    January 2005
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    164
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    31-6
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    1
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