RT Book, Section
A1 Rudolph, Colin D.
A1 Rudolph, Abraham M.
A1 Lister, George E.
A1 First, Lewis R.
A1 Gershon, Anne A.
SR Print(0)
ID 6724279
T1 Chapter 134. Principles of Inborn Errors of Metabolism
T2 Rudolph's Pediatrics, 22e
YR 2011
FD 2011
PB The McGraw-Hill Companies
PP New York, NY
SN 978-0-07-149723-7
LK accesspediatrics.mhmedical.com/content.aspx?aid=6724279
RD 2024/04/18
AB Over  400  human  diseases  that  are  due  to  inborn  errors  of  metabolism  are  now  recognized,  and  this  number  is  constantly  increasing.  However,  the  incidence  of  inborn  errors  may  well  be  underestimated,  because  diagnostic  errors  are  frequent.  Despite  the  relative  abundance  of  new  case  reports,  there  is  considerable  evidence  that  many  of  these  disorders  remain  undetected  or  misdiagnosed.  Several  factors  conspire  to  make  the  clinical  diagnosis  of  inborn  errors  of  metabolism  (IEM)  difficult.