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

6533b820fe1ef96bd1279851

RESEARCH PRODUCT

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

John J. Mitchell Alexander Solyom Dustin Tetzl Edward H. Schuchman Ekene O Nwosu Michael Beck Boris Hügle

subject

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

year	journal	country	edition	language
2017-01-01	Molecular Genetics and Metabolism

https://doi.org/10.1016/j.ymgme.2016.11.325

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