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  1. Large Patient Cohort Enables Insights into a Rare Disease

Large Patient Cohort Enables Insights into a Rare Disease

Iman G. Mahmoud et al.
August 19, 2020

ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype

Farber disease (FD) is a severe disorder for which rarity has hampered a comprehensive understanding. A recent study on a large cohort of patients provides unprecedented novel insights into FD. The study, to which CENTOGENE contributed genetic as well as biomarker data, was published in Clinical Genetics.