TY  - CHAP
M1  - Book, Section
TI  - Inborn Errors of Metabolism with Acute Neonatal Onset
A1  - Gomella, Tricia Lacy
A1  - Eyal, Fabien G.
A1  - Bany-Mohammed, Fayez
Y1  - 2020
N1  - 
T2  - Gomella's Neonatology: Management, Procedures, On-Call Problems, Diseases, and Drugs, 8e
AB  - Inborn  errors  of  metabolism  (IEMs)  are  a  group  of  disorders  highly  relevant  to  practitioners  treating  newborns;  immediate  diagnosis  and  appropriate  treatment  of  these  conditions  can  be  directly  linked  to  patient  outcome  to  the  extremes  of  avoiding  death  or  irreversible  brain  damage.  Pediatricians  may  feel  overwhelmed  by  the  number  and  complexity  of  these  disorders  (Table  100–1)  and  the  interpretation  of  laboratory  tests  needed  to  establish  the  diagnosis.  To  assist  clinicians,  this  chapter  focuses  on  the  symptom  patterns,  laboratory  tests  and  their  interpretation,  and  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  - 2024/04/19
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1168357743
ER  -