RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Marciniak, Bruno
A1 Dalens, Bernard J.
SR Print(0)
ID 58087532
T1 Sulfocysteinuria
T2 Syndromes: Rapid Recognition and Perioperative Implications
YR 2006
FD 2006
PB The McGraw-Hill Companies
PP New York, NY
SN 9780071354554
LK accessanesthesiology.mhmedical.com/content.aspx?aid=58087532
RD 2024/04/19
AB An  inborn  error  of  metabolism  leading  to  fatal  neurologic  disease,  severe  development  delay,  and  ectopia  lentis  in  children.  Infants  often  present  with  acute  hemiplegia.  Clinically  manifested  by  ataxic  gait,  generalized  dystonia,  and  choreoathetosis.  Confirmed  by  the  presence  of  sulfite  in  the  urine  (“strip-test”).