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Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline

Connective Tissue ManifestationsOcular DiseaseOphthalmologyδ1-Pyrroline-5-carboxylate Synthase DeficiencyReduced OrnithineMedicineNeurologyPharmacologyCataractOxidative Stress