α-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF01800424
Reference22 articles.
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2. Blom, W., Luteijn, J. C., Kelholte-Dijkman, H. H., Huijmans, J. G. M. and Loonen, M. C. B. Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency.Clin. Chim. Acta 134 (1983) 221–227
3. Callahan, J. W., Lassila, E. L., Den Tandt, W. and Philippart, M. α-N-Acetylgalactosaminidase: Isolation, properties and distribution of the human enzyme.Biochem. Med. 7 (1973) 424–431
4. Cooper, A., Sardharwalla, I. B. and Roberts, M. M. Human β-mannosidase deficiency.N. Engl. J. Med. 315 (1986) 1231
5. D'Azzo, A., Hoogeveen, A., Reuser, A. J. J., Robinson, D. and Galjaard, H. Molecular defect in combined β-galactosidase and neuraminidase deficiency in man.Proc. Natl. Acad. Sci. 79 (1982) 4535–4539
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