TY  - CHAP
M1  - Book, Section
TI  - L-2-Hydroxyglutaric Aciduria
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
PY  - 2019
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
AB  - It  is  a  rare  neurometabolic  inborn  error  manifesting  as  progressive  neurodegenerative  disorder  with  psychomotor  retardation.  It  is  characterized  by  increased  hydroxyglutaric  acid  in  the  urine.  The  clinical  presentation  is  characterized  by  mental  retardation,  moderate  to  severe  seizures,  muscular  dystonia,  encephalitis,  and  dysphagia.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessanesthesiology.mhmedical.com/content.aspx?aid=1164076120
ER  -