RT Book, Section
A1 Roth, Karl S.
A1 Friedman, Aaron
A2 Sarafoglou, Kyriakie
A2 Hoffmann, Georg F.
A2 Roth, Karl S.
SR Print(0)
ID 1140322738
T1 Disorders of Membrane Transport
T2 Pediatric Endocrinology and Inborn Errors of Metabolism, 2e
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9780071773140
LK accesspediatrics.mhmedical.com/content.aspx?aid=1140322738
RD 2024/04/23
AB The  study  of  the  disorders  of  membrane  transport  has  contributed  as  much  or  more  to  our  understanding  of  cell  biology  and  metabolism  as  any  other  group  of  disorders  discussed  in  this  book.  Indeed,  one  might  make  the  cogent  argument  that  one  of  these  disorders  defined  the  term  inborn  errors  of  metabolism  when  Dr.  Archibald  Garrod  introduced  the  phrase  in  1908.  In  his  Croonian  Lecture  to  the  members  of  the  Royal  Academy,  Garrod  proposed  that  there  is  a  group  of  disorders,  each  one  familial  in  nature,  deriving  from  a  specific  abnormality  of  metabolism  of  a  particular  compound.  As  proof  of  his  hypothesis,  he  offered  examples  of  four  distinct  disorders,  of  which  one  was  the  membrane-transport  disorder  cystinuria.