PMID- 2553307
OWN - NLM
STAT- MEDLINE
DCOM- 19891129
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 36
IP  - 4
DP  - 1989 Oct
TI  - Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in 
      sialuria fibroblasts.
PG  - 242-9
AB  - The results of the investigations reported here indicate that patients affected 
      with the infantile sialic acid storage disorder (ISSD) and the original French 
      sialuria patient suffer from distinct and fundamentally different disorders. 
      While phase microscopy and immunochemical studies demonstrated abnormal storage 
      within intracellular inclusions in ISSD cells, no morphological evidence of 
      storage within any subcellular organelles was found in the sialuria cells. 
      Moreover, comparative subcellular fractionation studies on gradients of colloidal 
      silica showed the excess sialic acid in ISSD cells to be located within the light 
      (buoyant) lysosomal fraction, while the excessive, free sialic acid in the 
      sialuria cells was found in the cytoplasmic fraction with no increased storage 
      within the lysosomal fractions. It is concluded that the sialic acid 
      abnormalities in ISSD and the French type of sialuria are the result of very 
      different biochemical and genetically unrelated abnormalities.
FAU - Thomas, G H
AU  - Thomas GH
AD  - Kennedy Institute, Baltimore, Maryland.
FAU - Scocca, J
AU  - Scocca J
FAU - Miller, C S
AU  - Miller CS
FAU - Reynolds, L
AU  - Reynolds L
LA  - eng
GR  - HD-10981/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (Sialic Acids)
SB  - IM
MH  - Fibroblasts/*metabolism
MH  - Humans
MH  - Inclusion Bodies/*metabolism
MH  - Microscopy, Phase-Contrast
MH  - Organelles/*metabolism
MH  - Sialic Acids/*metabolism
RF  - 25
EDAT- 1989/10/01 00:00
MHDA- 1989/10/01 00:01
CRDT- 1989/10/01 00:00
PHST- 1989/10/01 00:00 [pubmed]
PHST- 1989/10/01 00:01 [medline]
PHST- 1989/10/01 00:00 [entrez]
AID - 10.1111/j.1399-0004.1989.tb03197.x [doi]
PST - ppublish
SO  - Clin Genet. 1989 Oct;36(4):242-9. doi: 10.1111/j.1399-0004.1989.tb03197.x.