Farber disease (FD) is a rare lysosomal storage disorder caused by mutation of theASAH1gene. Classic symptoms of FD include subcutaneous nodules, joint pain and hoarseness. Most patients die during childhood. H
Paton, A. Poulos, B. Kustermann-Kuhn, W. Roggendorf, T. Grisar, M. Popp Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined Sphingolipidoses Eur. J. Pediatr., 149 (1989), pp. 31-39 View in ...
Dana-Farber Cancer Institute investigators have found that people experience discrimination in different ways and in various realms of cancer care. Read More Most Young Breast Cancer Survivors Can Have Children June 8th 2024 Most young breast cancer survivors can go on to have children despite the ...
Farber’s Disease (Disseminated Lipogranulomatosis) - A Pathological, Histochemical and Ultrastructural Study-. Pathol. Int. 1979;29:135–55. Article CAS Google Scholar Zarbin MA, Green WR, Moser AB, Tiffany C. Increased Levels of Ceramide in the Retina of a Patient With Farber’s Disease....
management, including setting up a database containing TCM electronic medical records and prescriptions ( 处方)The third is to give better play to the advantages of TCM, especially acupuncture ( 针灸)and naprapathy(推拿). The function of TCM in disease prevention and recovery will also be ...
Farber disease clinical impact: Patient reported outcomes as a measure of disease burdendoi:10.1016/j.ymgme.2021.11.216J. MitchellP. HarmatzL. SelimI. DinN. MunganFatma BulutC. LampeC. GrantCarlos R. FerreiraR. PuriMolecular Genetics and Metabolism...
MichaelH��gleBorisMolecular Genetics & MetabolismSolyom A, Nwosu EO, Mitchell J et al. Farber disease (acid ceramidase deficiency) epidemiology: Literature review and patient cohort data indicate moderate and attenuated phenotypes are likely underrepresented in the medical literature and are ...