TY  - CHAP
M1  - Book, Section
TI  - Infantile Sialic Acid Storage Disease
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
PY  - 2019
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
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.  It  is  the  most  severe  form  of  the  sialic  acid  storage  diseases.  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  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1164073865
ER  -