TY  - CHAP
M1  - Book, Section
TI  - Lysosomal Diseases
A1  - Hay, Jr, William W.
A1  - Levin, Myron J.
A1  - Deterding, Robin R.
A1  - Abzug, Mark J.
PY  - 2017
T2  - Quick Medical Diagnosis & Treatment Pediatrics
AB  - Lysosomal  storage  disorders  may  present  clinically  with  multisystem  involvement  including  hepatosplenomegaly,  cardiac  disease,  and  skeletal  features,  with  or  without  neurologic  involvement.Brain  imaging,  skeletal  survey,  and  urinary  mucopolysaccharide  or  oligosaccharide  screen  may  be  helpful  initial  screening  studies;  most  diagnoses  are  made  by  enzyme  assay.Most  are  inherited  as  autosomal  recessive  traits,  and  all  can  be  diagnosed  in  utero  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1145456963
ER  -