Salla desease and sialic acid

yiunama yiunama at haven.ios.com
Sat Apr 13 22:54:13 EST 1996


publipol at atos.warman.com.pl (Aldo Avogadri) wrote:
>I'm getting the degree in medicine and I need to have same information 
>regarding Salla desease and metabolism of sialic acid.
>Thanks in advance
>
>-- 
>Aldo Avogadri              ---------------------------------------
>Warsaw - Poland            | e_mail: publipol at atos.warman.com.pl | 
>tel. 0048-22-431222        ---------------------------------------
>


You might try to start with the following article, I'd like to have 
further information too.

Ref:

Schleutker J, et al

Lysosomal free sialic acid storage disorders with different phenotypic
presentations--infantile-form sialic acid storage disease and Salla
disease--represent allelic disorders on 6q14-15.

Am J Hum Genet 1995 Oct;57[4]:893-910


Yiunama


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