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  1. Manifestation and Progression of an Ultra-Rare Disorder

Manifestation and Progression of an Ultra-Rare Disorder

Izabel Maryalexandra Rios-Flores et al.
May 15, 2020

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.