RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164080305
T1 Niemann-Pick Disease
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=1164080305
RD 2024/04/20
AB Group  of  rare  inherited  disorders  of  fat  metabolism  with  varying  degrees  of  lipid  storage  and  foam  cell  infiltration  in  tissues.  Clinical  features  include  jaundice,  progressive  loss  of  motor  skills,  feeding  difficulties,  learning  disabilities,  and  hepatosplenomegaly.  Lysosomal  storage  disorder  caused  by  deficient  activity  of  the  enzyme  acid  sphingomyelinase  (Types  A  and  B)  or  due  to  defective  function  in  cholesterol  transport  (Type  C).