RT Book, Section
A1 Lichtman, Marshall A.
A1 Kaushansky, Kenneth
A1 Prchal, Josef T.
A1 Levi, Marcel M.
A1 Burns, Linda J.
A1 Linch, David C.
SR Print(0)
ID 1189334143
T1 Gaucher Disease and Related Lysosomal Storage Diseases
T2 Williams Manual of Hematology, 10e
YR 2022
FD 2022
PB McGraw-Hill Education
PP New York, NY
SN 9781264269204
LK hemonc.mhmedical.com/content.aspx?aid=1189334143
RD 2024/04/19
AB These  are  hereditary  disorders  in  which  one  or  more  tissues  become  engorged  with  specific  lipids  because  of  deficiencies  of  the  lysosomal  enzymes  required  for  hydrolysis  of  one  of  the  glycosidic  bonds.  The  type  of  lipid  and  its  tissue  distribution  have  a  characteristic  pattern  in  each  disorder.In  Gaucher  disease  (the  most  common  disorder)  and  Niemann-Pick  disease,  major  clinical  manifestations  result  from  macrophage  accumulation  of  glucocerebroside  and  sphingomyelin,  respectively,  leading  to  their  massive  expansion  in  tissues.