TY  - CHAP
M1  - Book, Section
TI  - Lysosomal Storage Diseases
A1  - Hopkin, Robert J.
A1  - Grabowski, Gregory A.
A2  - Jameson, J. Larry
A2  - Fauci, Anthony S.
A2  - Kasper, Dennis L.
A2  - Hauser, Stephen L.
A2  - Longo, Dan L.
A2  - Loscalzo, Joseph
PY  - 2018
T2  - Harrison's Principles of Internal Medicine, 20e
AB  - Lysosomes  are  heterogeneous  subcellular  organelles  containing  specific  hydrolyses  that  allow  selective  processing  or  degradation  of  proteins,  nucleic  acids,  carbohydrates,  and  lipids.  There  are  more  than  50  different  lysosomal  storage  diseases  (LSDs),  classified  according  to  the  nature  of  the  stored  material  (Table  411-1).  Several  of  the  most  prevalent  disorders  are  reviewed  here:  Tay-Sachs  disease,  Fabry  disease,  Gaucher  disease,  Niemann-Pick  disease,  lysosomal  acid  lipase  deficiency  (LALD),  the  mucopolysaccharidoses,  and  Pompe  disease.  LSDs  should  be  considered  in  the  differential  diagnosis  of  patients  with  neurologic,  renal,  or  muscular  degeneration  and/or  unexplained  hepatomegaly,  splenomegaly,  cardiomyopathy,  or  skeletal  dysplasias  and  deformations.  Physical  findings  are  disease  specific,  and  enzyme  assays  or  genetic  testing  can  be  used  to  make  a  definitive  diagnosis.  Although  the  nosology  of  LSDs  segregates  the  variants  into  distinct  phenotypes,  these  are  heuristic;  in  the  clinic,  each  disease  exhibits—to  varying  degrees—a  continuous  spectrum  of  manifestations,  from  severe  to  attenuated  variants.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1155957630
ER  -