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  - 2024/04/18
UR  - accessanesthesiology.mhmedical.com/content.aspx?aid=1164069782
ER  -