TY  - CHAP
M1  - Book, Section
TI  - Infantile Sialic Acid Storage Disease
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Marciniak, Bruno
A1  - Dalens, Bernard J.
PY  - 2006
T2  - Syndromes: Rapid Recognition and Perioperative Implications
AB  - Autosomal  recessive  inherited  metabolic  disorder  characterized  by  hyperexcretion  of  free  sialic  acid  in  the  urine  and  by  its  storage  in  the  lysosomes  of  different  tissues.  Clinical  features  include  coarse  facial  abnormalities,  clear  cornea,  albinoid  fungi,  ptosis,  nystagmus,  anteverted  nose,  high-arched  palate,  cardiomegaly,  heart  failure,  hepatosplenomegaly,  nephrotic  syndrome,  hypotonia,  and  developmental  delay.  Neonatal  ascites,  hydrops  fetalis,  and  early  death  can  occur.  
SN  - 
PB  - The McGraw-Hill Companies
CY  - New York, NY
Y2  - 2024/04/23
UR  - accessanesthesiology.mhmedical.com/content.aspx?aid=58080983
ER  -