RT Book, Section
A1 Hay, Jr, William W.
A1 Levin, Myron J.
A1 Deterding, Robin R.
A1 Abzug, Mark J.
SR Print(0)
ID 1145456963
T1 Lysosomal Diseases
T2 Quick Medical Diagnosis & Treatment Pediatrics
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9781264257614
LK accesspediatrics.mhmedical.com/content.aspx?aid=1145456963
RD 2024/04/17
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