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
Related Documents :
6271209 - Electron paramagnetic resonance studies on the fluidity and surface dynamics of egg pho...
9406769 - Biochemical properties of a neuraminidase of trichomonas vaginalis.
17093269 - Galactose starvation in a bloodstream form trypanosoma brucei udp-glucose 4'-epimerase ...
8433719 - Lipophosphoglycan-like glycoconjugate of tritrichomonas foetus and trichomonas vaginalis.
6428909 - Erythrocyte membrane sialic acids in primary and secondary hypertension in man and rat.
18757189 - A novel sialic acid-specific lectin from phaseolus coccineus seeds with potent antineop...
20428079 - P-aminoacetophenonic acids produced by a mangrove endophyte streptomyces sp. (strain hk...
593069 - Effect of polyunsaturated fatty acids of the alpha-linolenic series on the development ...
24219649 - Gallic acid improves glucose tolerance and triglyceride concentration in diet-induced o...
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
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

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Cherry-red spot myoclonus syndrome (type I sialidosis).
Next Document:  Adult type of neuronal ceroid lipofuscinosis.