Atypical expression of ß-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities-Reference-Cited by-同舟云学术

Atypical expression of ß-galactosidase deficiency in a child with Hurler-like features but without neurological abnormalities

Published:2008-04-23 Issue:1 Volume:14 Page:16-23
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Andria Generoso,Giudice Ennio Del,Reuser Arnold J. J.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1978.tb02055.x/fullpdf

Reference25 articles.

1. Atsumi , T. T. Miyatake T. Ohbayashi Y. Mizuno M. Yoshida 1976 A case of Ramsey-Hunt syndrome with membranous cytoplasmic bodies-like structures and β-galactosidase deficiency Proc. ann. Meet. Jap. neurol. Soc. Suzuki et al.

2. Variation in the phenotypic expression of β-glucuronidase deficiency;Beaudet;J. Pediat.,1975

3. Human α-fucosidasc. Purification and properties;Di Matteo;Biochim. biophys. Acta.,1976

4. Pericellular glycosaminoglycans in cultured human cells. A possible cause of error in prenatal diagnosis of mucopolysaccharidoses;Fortuin;Clin. chim. Acta.,1978

5. The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide;Fratantoni;Proc. nat. Acad. Sci. (Wash.),1968

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