Inter- and intrafamilial variability in mucolipidosis II (I-cell disease)
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1995.tb03958.x/fullpdf
Reference28 articles.
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2. Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level;Amaral;J Med Genet,1994
3. Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency;D'Azzo;J Biol Chem,1984
4. Fetal mucolipidosis II(I-cell disease): radiologic and pathologic correlation;Babcock;Pediatr Radiol,1986
5. The assay of arylsulphatase A and B in human urine;Baum;Clin Chim Acta,1959
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