Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1957 1
1962 1
1970 1
1972 1
1976 1
1979 2
1984 1
1985 2
1986 2
1987 1
1989 1
1996 2
1997 1
1999 1
2001 1
2002 2
2006 3
2012 1
2013 2
2014 1
2015 1
2016 1
2017 1
2018 1
2020 1
2024 0

Text availability

Article attribute

Article type

Publication date

PubMed (OMIM) for id: 427

32 results

Results by year

Filters applied: . Clear all
Page 1
Farber disease in a patient from China.
Bao X, Ma M, Zhang Z, Xu Y, Qiu Z. Bao X, et al. Am J Med Genet A. 2020 Sep;182(9):2184-2186. doi: 10.1002/ajmg.a.61752. Epub 2020 Jul 24. Am J Med Genet A. 2020. PMID: 32706452
Acid ceramidase deficiency: Farber disease and SMA-PME.
Yu FPS, Amintas S, Levade T, Medin JA. Yu FPS, et al. Orphanet J Rare Dis. 2018 Jul 20;13(1):121. doi: 10.1186/s13023-018-0845-z. Orphanet J Rare Dis. 2018. PMID: 30029679 Free PMC article. Review.
Identification of ASAH1 as a susceptibility gene for familial keloids.
Santos-Cortez RLP, Hu Y, Sun F, Benahmed-Miniuk F, Tao J, Kanaujiya JK, Ademola S, Fadiora S, Odesina V, Nickerson DA, Bamshad MJ, Olaitan PB, Oluwatosin OM, Leal SM, Reichenberger EJ. Santos-Cortez RLP, et al. Eur J Hum Genet. 2017 Oct;25(10):1155-1161. doi: 10.1038/ejhg.2017.121. Epub 2017 Jul 26. Eur J Hum Genet. 2017. PMID: 28905881 Free PMC article.
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.
Bonafé L, Kariminejad A, Li J, Royer-Bertrand B, Garcia V, Mahdavi S, Bozorgmehr B, Lachman RL, Mittaz-Crettol L, Campos-Xavier B, Nampoothiri S, Unger S, Rivolta C, Levade T, Superti-Furga A. Bonafé L, et al. Arthritis Rheumatol. 2016 Sep;68(9):2323-7. doi: 10.1002/art.39659. Epub 2016 Jul 29. Arthritis Rheumatol. 2016. PMID: 26945816
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.
Dyment DA, Sell E, Vanstone MR, Smith AC, Garandeau D, Garcia V, Carpentier S, Le Trionnaire E, Sabourdy F, Beaulieu CL, Schwartzentruber JA, McMillan HJ; FORGE Canada Consortium; Majewski J, Bulman DE, Levade T, Boycott KM. Dyment DA, et al. Clin Genet. 2014 Dec;86(6):558-63. doi: 10.1111/cge.12307. Epub 2013 Nov 21. Clin Genet. 2014. PMID: 24164096
Acid ceramidase and human disease.
Park JH, Schuchman EH. Park JH, et al. Biochim Biophys Acta. 2006 Dec;1758(12):2133-8. doi: 10.1016/j.bbamem.2006.08.019. Epub 2006 Sep 1. Biochim Biophys Acta. 2006. PMID: 17064658 Free article. Review.
32 results