Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1996 | 1 |
1999 | 1 |
2004 | 1 |
2005 | 1 |
2008 | 1 |
2024 | 0 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
Eur J Hum Genet. 2008 Oct;16(10):1176-86. doi: 10.1038/ejhg.2008.91. Epub 2008 May 14.
Eur J Hum Genet. 2008.
PMID: 18478038
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
Baumgartner MR, Rabier D, Nassogne MC, Dufier JL, Padovani JP, Kamoun P, Valle D, Saudubray JM.
Baumgartner MR, et al.
Eur J Pediatr. 2005 Jan;164(1):31-6. doi: 10.1007/s00431-004-1545-3. Epub 2004 Oct 28.
Eur J Pediatr. 2005.
PMID: 15517380
Item in Clipboard
Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition.
Hu CA, Lin WW, Obie C, Valle D.
Hu CA, et al.
J Biol Chem. 1999 Mar 5;274(10):6754-62. doi: 10.1074/jbc.274.10.6754.
J Biol Chem. 1999.
PMID: 10037775
Free article.
Item in Clipboard
Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis.
Aral B, Schlenzig JS, Liu G, Kamoun P.
Aral B, et al.
C R Acad Sci III. 1996 Mar;319(3):171-8.
C R Acad Sci III. 1996.
PMID: 8761662
Item in Clipboard
Cite
Cite