Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
Study designOther primary literature
SubjectHuman
Record checks
- Study design
- Other primary literature
- Subject
- Human
- Publication year
- 2005
- Source
- doi.org
- Abstract display
- Not reproduced here
- Publication status
- Active
- Status checked
- 17 Aug 2026
- Collected
- 13 Aug 2026
- Freshness
- Current
- Review stage
- Automated
- Record status
- Published
Abstract
cc by 以外（cc by-nc / cc by-nc-nd / NONE 等）は抄録を再掲しない。DOI/PMID へのリンクのみ表示する。
MeSH
DOI 10.1007/s00431-004-1545-3
PMID 15517380
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