Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings
about
The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseasesHuman alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotypeCerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy.Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.
P2860
Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings
description
1994 nî lūn-bûn
@nan
1994 թուականին հրատարակուած գիտական յօդուած
@hyw
1994 թվականին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Mild phenotypic expression of ...... ficiency in two adult siblings
@ast
Mild phenotypic expression of ...... ficiency in two adult siblings
@en
Mild phenotypic expression of ...... ficiency in two adult siblings
@nl
type
label
Mild phenotypic expression of ...... ficiency in two adult siblings
@ast
Mild phenotypic expression of ...... ficiency in two adult siblings
@en
Mild phenotypic expression of ...... ficiency in two adult siblings
@nl
prefLabel
Mild phenotypic expression of ...... ficiency in two adult siblings
@ast
Mild phenotypic expression of ...... ficiency in two adult siblings
@en
Mild phenotypic expression of ...... ficiency in two adult siblings
@nl
P2093
P356
P1476
Mild phenotypic expression of ...... ficiency in two adult siblings
@en
P2093
E Rodriguez Diaz
M Aparicio
P2888
P304
P356
10.1007/BF00712015
P407
P577
1994-01-01T00:00:00Z
P6179
1025430668