TY  - CHAP
M1  - Book, Section
TI  - Carboxylase Deficiency
A1  - Hay, Jr, William W.
A1  - Levin, Myron J.
A1  - Deterding, Robin R.
A1  - Abzug, Mark J.
PY  - 2017
T2  - Quick Medical Diagnosis & Treatment Pediatrics
AB  - Isolated  pyruvate  carboxylase  deficiency  presents  with  lactic  acidosis  and  hyperammonemia  in  early  infancyEven  if  biochemically  stabilized,  the  neurologic  outcome  is  dismalIsolated  3-methylcrotonyl-CoA  carboxylase  deficiencyFrequently  recognized  on  newborn  screening  using  acylcarnitine  analysisUsually  a  benign  condition  that  sometimes  causes  symptoms  of  acidosis  and  neurologic  depression  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/23
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1145454291
ER  -