RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164069782
T1 Farber Uzman Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164069782
RD 2024/04/24
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.