scholarly journals A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse

2001 ◽  
Vol 10 (11) ◽  
pp. 1191-1199 ◽  
Author(s):  
J. Matsuda
1990 ◽  
Vol 6 (4) ◽  
pp. 194-197 ◽  
Author(s):  
A. Fiumara ◽  
L. Pavone ◽  
L. Siciliano ◽  
A. Tinè ◽  
E. Parano ◽  
...  

1991 ◽  
Vol 54 (11) ◽  
pp. 1011-1012 ◽  
Author(s):  
R P Grewal ◽  
N Petronas ◽  
N W Barton

2012 ◽  
Vol 10 (2) ◽  
pp. 233-235 ◽  
Author(s):  
Tatiana Suemi Sano

Krabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.


2005 ◽  
Vol 27 (9) ◽  
pp. 461
Author(s):  
Thomas Gross ◽  
Warren Lo ◽  
Micah Skeens ◽  
Michael Boyer ◽  
Kathryn Klopfenstein ◽  
...  

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