Manifestation and Progression of an Ultra-Rare Disorder
Acute Liver Failure in a Male Patient With NGLY1-congenital Disorder of Deglycosylation
Rarity is a major obstacle for comprehensively understanding certain genetic disorders, and thus the availability of case reports is critical. The disease course of a patient, who had been diagnosed at CENTOGENE with an ultra-rare condition termed ‘Congenital Disorder of Deglycosilation,’ was extensively described in the European Journal of Medical Genetics.
- Izabel Maryalexandra Rios-Flores
- et al.