Variable clinical presentation in lysosomal storage disorders
Author:
Affiliation:
1. ; Children's Hospital; University of Mainz; Langenbeckstrasse 1 Mainz D-55101 Germany
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1012463605992/fullpdf
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3. Morquio's disease type B (beta-galactosidase deficiency) in three siblings;Beck;S Afr Med J,1987
4. Inter-and intrafamilial variability in mucolipidosis II (I-cell disease);Beck;Clin Genet,1995
5. Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies;Bunge;Biochim Biophys Acta,1998
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