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 |
---|---|
2006 | 1 |
2018 | 1 |
2024 | 0 |
Search Results
2 results
Results by year
Filters applied: . Clear all
Page 1
Granulomatous enterocolitis associated with Hermansky-Pudlak syndrome.
Am J Gastroenterol. 2006 Sep;101(9):2090-5. doi: 10.1111/j.1572-0241.2006.00733.x. Epub 2006 Jul 18.
Am J Gastroenterol. 2006.
PMID: 16848805
Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases.
McElvaney OJ, Huizing M, Gahl WA, O'Donovan P, Horan D, Logan PM, Reeves EP, McElvaney NG.
McElvaney OJ, et al.
Thorax. 2018 Nov;73(11):1085-1088. doi: 10.1136/thoraxjnl-2018-211920. Epub 2018 Jun 25.
Thorax. 2018.
PMID: 29941477
Free PMC article.
Of interest, this is the only described HPS type 1 patient with two different (compound heterozygote) splice site variants in HPS1 In addition to detailing a novel genetic result and outlining the progressive clinical course of disease in this case, we discuss the manageme …
Of interest, this is the only described HPS type 1 patient with two different (compound heterozygote) splice site variants in HPS1 In additi …
Item in Clipboard
Cite
Cite
ARTICLE TYPE
ARTICLE LANGUAGE
AGE
Filters on the sidebar will be reset to the default list and any currently applied filters will be cleared.