RT Book, Section
A1 Treacy, Eileen P.
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181400987
T1 Treatment of Genetic Disease
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181400987
RD 2024/04/19
AB The  evaluation  of  improvements  in  the  response  to  treatment  of  65  inborn  errors  of  metabolism  reviewed  in  1993  has  been  reviewed  recently  by  Campeau  and  colleagues  (see  Supplement  attached  to  this  chapter).  Improvements  in  the  overall  response  to  treatment  have  resulted  from  increased  understanding  of  the  pathophysiology  of  the  conditions,  improved  diagnostic  technologies,  and  acceleration  of  protein-replacement  strategies  with  the  increase  in  small-molecule  treatments,  including  substrate-reduction  therapy  for  the  lysosomal  disorders,  chaperone  therapy,  and  drugs  causing  stop-codon  read-through.