RT Book, Section
A1 Prasad, Asuri N.
A1 Malinger, Gustavo
A1 Lerman-Sagie, Tally
A2 Malinger, Gustavo
A2 Monteagudo, Ana
A2 Pilu, Gianluigi
A2 Paladini, Dario
A2 Timor-Tritsch, Ilan E.
SR Print(0)
ID 1194721048
T1 Metabolic Disorders
T2 Timor's Ultrasonography of the Prenatal Brain, 4e
YR 2023
FD 2023
PB McGraw Hill Education
PP New York, NY
SN 9781260136166
LK obgyn.mhmedical.com/content.aspx?aid=1194721048
RD 2024/04/23
AB KEY  POINTSInborn  errors  of  metabolism  (IEM)  are  rare  disorders,  most  of  them  only  present  after  delivery.Several  IEMs  may  affect  the  fetus,  producing  congenital  malformations  and/or  brain  insults.Prenatal  diagnosis  is  usually  possible  following  the  birth  of  an  affected  child;  in  patients  without  a  family  history,  even  in  the  presence  of  severe  malformations,  a  definitive  diagnosis  is  usually  only  made  after  delivery.Biochemical  tests  and  molecular  studies  are  indicated  in  selected  cases.