RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164085926
T1 Sulfocysteinuria
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=1164085926
RD 2024/04/23
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”).