RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164087217
T1 Uridine Diphosphate Galactose Epimerase Deficiency
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164087217
RD 2024/04/17
AB A  disorder  of  galactose  metabolism  characterized  by  a  deficiency  of  uridylyl  diphosphogalactose-4-epimerase  activity  resulting  in  benign  asymptomatic  form  (deficiency  in  blood  cells  only)  and  severe  forms  with  hepatic  failure,  ☞Fanconi-Bickler  Syndrome,  and  neurological  impairment.