RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Marciniak, Bruno
A1 Dalens, Bernard J.
SR Print(0)
ID 58070730
T1 Farber Uzman Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications
YR 2006
FD 2006
PB The McGraw-Hill Companies
PP New York, NY
SN 9780071354554
LK accessanesthesiology.mhmedical.com/content.aspx?aid=58070730
RD 2024/04/19
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  can  reach  adulthood).  Severe  motor  and  mental  retardation  is  evident.