TY  - CHAP
M1  - Book, Section
TI  - Inborn Errors of Metabolism with Acute Neonatal Onset
A1  - Gomella, Tricia Lacy
A1  - Cunningham, M. Douglas
A1  - Eyal, Fabien G.
A1  - Tuttle, Deborah J.
PY  - 2013
T2  - Neonatology: Management, Procedures, On-Call Problems, Diseases, and Drugs, 7e
AB  - Inborn  errors  of  metabolism  (IEMs)  are  a  group  of  disorders  that  are  of  great  importance  to  physicians  treating  newborns.  The  immediate  diagnosis  and  appropriate  treatment  of  these  conditions  are  often  directly  linked  to  the  patient's  outcome  to  the  extremes  of  avoiding  death  or  irreversible  brain  damage.  Pediatricians  may  feel  overwhelmed  by  the  number  and  complexity  of  these  disorders  (Table  101–1)  and  the  interpretation  of  laboratory  tests  needed  to  establish  the  diagnosis.  This  chapter,  therefore,  concentrates  on  the  symptom  patterns,  laboratory  tests  and  their  interpretation,  as  well  as  the  initial  stabilization  of  the  patient  rather  than  discussing  details  of  the  specific  biochemical  and  genetic  defects  or  special  treatment  measures  of  IEMs.  Usually,  the  patient's  ongoing  treatment  is  supervised  by  a  geneticist  specially  trained  in  biochemical  genetics.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/20
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1107524238
ER  -