RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164064619
T1 Carnosinemia
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164064619
RD 2024/04/18
AB An  inherited  metabolic  disorder  characterized  by  severe  mental  defect  and  myoclonic  seizures.  The  clinical  features  include  a  variety  of  neurological  symptoms  such  as  hypotonia,  developmental  delay,  mental  retardation,  sensory  neuropathy,  tremors,  and  demyelinization  of  gray  matter.