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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 underdiagnosed
- Source :
- Molecular Genetics and Metabolism. 120:S124-S125
- Publication Year :
- 2017
- Publisher :
- Elsevier BV, 2017.
- Subjects :
- medicine.medical_specialty
Farber disease
Pathology
business.industry
Endocrinology, Diabetes and Metabolism
medicine.disease
Biochemistry
Phenotype
Acid Ceramidase Deficiency
03 medical and health sciences
0302 clinical medicine
Endocrinology
030220 oncology & carcinogenesis
Internal medicine
Cohort
Epidemiology
Genetics
Medicine
business
Molecular Biology
030217 neurology & neurosurgery
Medical literature
Subjects
Details
- ISSN :
- 10967192
- Volume :
- 120
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics and Metabolism
- Accession number :
- edsair.doi...........024b3b87ed9bc3dc61e691821551ea9b
- Full Text :
- https://doi.org/10.1016/j.ymgme.2016.11.325