Document Detail

Sialic acid storage disorders: observations on clinical and biochemical variation.
MedLine Citation:
PMID:  1817039     Owner:  NLM     Status:  MEDLINE    
Lysosomal accumulation of free sialic acid results in two phenotypically distinct inherited metabolic disorders, Salla disease and infantile sialic acid storage disease. Clinical and biochemical findings in both diseases are reviewed. Recent studies indicate that sialic acid storage is a consequence of defective function of a lysosomal membrane transport system specific for sialic acid and some other acidic monosaccharides.
G M Mancini; F W Verheijen; C E Beerens; M Renlund; P Aula
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Developmental neuroscience     Volume:  13     ISSN:  0378-5866     ISO Abbreviation:  Dev. Neurosci.     Publication Date:  1991  
Date Detail:
Created Date:  1992-07-09     Completed Date:  1992-07-09     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7809375     Medline TA:  Dev Neurosci     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  327-30     Citation Subset:  IM    
Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands.
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MeSH Terms
Biological Transport, Active
Finland / epidemiology
Lysosomal Storage Diseases / classification,  epidemiology,  metabolism*,  pathology
N-Acetylneuraminic Acid
Proteins / genetics,  physiology*
Sialic Acids / metabolism*
Reg. No./Substance:
0/Proteins; 0/Sialic Acids; 0/lysosomal proteins; 131-48-6/N-Acetylneuraminic Acid

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