RT Book, Section
A1 Lee, Philip J.
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181401185
T1 The Adult Patient with Hereditary Metabolic 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=1181401185
RD 2024/04/25
AB Monogenic  inborn  errors  of  metabolism  are  a  set  of  disorders  inherited  in  Mendelian  fashion,  usually  as  mutant  homozygotes  for  autosomal  recessive  alleles  or  as  mutant  hemizygotes  for  X-linked  alleles.  It  is  their  nature  to  express  themselves  first  in  the  newborn  period  or  early  infancy.  Hence,  these  diseases  attract  the  attention  of  pediatricians.  Accordingly,  diagnosis  and  treatment  have  been  part  of  pediatric  medicine  up  to  now.