TY - CHAP M1 - Book, Section TI - Farber Uzman Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Inborn error of the fatty metabolism caused by a lysosomal enzyme deficiency and resulting in the accumulation of ceramide in body tissues with multiple organ failure and death in infancy (but mildly affected patients in early age can reach adulthood). Severe motor and mental retardation is evident. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/08 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164069782 ER -