A Young Infant with Joint Swellings and Subcutaneous Nodules
- PMID: 32542485
- DOI: 10.1007/s12098-020-03270-7
A Young Infant with Joint Swellings and Subcutaneous Nodules
References
-
- Gatt S. Enzymic hydrolysis and synthesis of ceramides. J Biol Chem. 1963;238:3131–3. - DOI
-
- Bashyam MD, Chaudhary AK, Kiran M, et al. Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. Clin Genet. 2014;86:530–8. - DOI
-
- Yu FPS, Amintas S, Levade T, Medin JA Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis 2018;13:121.
-
- Ehlert K, Levade T, Di Rocco M, et al. Allogeneic hematopoietic cell transplantation in Farber disease. J Inherit Metab Dis. 2019;42:286–94. - DOI
-
- Schuchman EH, Mitchell J, Solyom A. Morbidity and mortality associated with Farber disease and prospects for therapy. Exp Opin Orphan Drugs. 2017;5:717–26. - DOI
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
