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 |
---|---|
1994 | 1 |
2000 | 1 |
2002 | 1 |
2006 | 1 |
2021 | 1 |
2024 | 0 |
Search Results
5 results
Results by year
Filters applied: . Clear all
Page 1
Four novel PEPD alleles causing prolidase deficiency.
Am J Hum Genet. 1994 Jun;54(6):1014-21.
Am J Hum Genet. 1994.
PMID: 8198124
Free PMC article.
A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency.
Kikuchi S, Tanoue A, Endo F, Wakasugi S, Matsuo N, Tsujimoto G.
Kikuchi S, et al.
J Hum Genet. 2000;45(2):102-4. doi: 10.1007/s100380050023.
J Hum Genet. 2000.
PMID: 10721675
Item in Clipboard
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.
Forlino A, Lupi A, Vaghi P, Icaro Cornaglia A, Calligaro A, Campari E, Cetta G.
Forlino A, et al.
Hum Genet. 2002 Oct;111(4-5):314-22. doi: 10.1007/s00439-002-0792-5. Epub 2002 Aug 14.
Hum Genet. 2002.
PMID: 12384772
Item in Clipboard
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.
Lupi A, Rossi A, Campari E, Pecora F, Lund AM, Elcioglu NH, Gultepe M, Di Rocco M, Cetta G, Forlino A.
Lupi A, et al.
J Med Genet. 2006 Dec;43(12):e58. doi: 10.1136/jmg.2006.043315.
J Med Genet. 2006.
PMID: 17142620
Free PMC article.
Item in Clipboard
Macrophage Activation Syndrome in a Patient with Prolidase Deficiency: a Rare Genetic Disorder Associated with Elevated IgE and Lupus-Like Syndrome.
Chidambaram AC, Thangaraju SK, Sarangarajan S, Maulik K, Ramamoorthy JG, Gunasekaran D.
Chidambaram AC, et al.
J Clin Immunol. 2021 Oct;41(7):1696-1700. doi: 10.1007/s10875-021-01096-2. Epub 2021 Jul 15.
J Clin Immunol. 2021.
PMID: 34263393
No abstract available.
Item in Clipboard
Cite
Cite