Beta-glucuronidase deficiency in a girl with unusual clinical features

Author:

Pfeiffer R. A.,Kresse H.,B�umer N.,Sattinger E.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference20 articles.

1. Beaudet, A. L., DiFerrante, N., Nichols, B., Ferry, G. D.: ?-glucuronidase deficiency: altered enzyme substrate recognition. Amer. J. hum. Genet. (abstr.) 24, 259 (1972)

2. Beaudet, A. L., DiFerrante, N. M., Ferry, G. D., Nichols, B. L.: ?-glucuronidase deficiency (Mucopolysaccharidosis type VII). Birth Defects: Orig. Art. Ser. X, 12, 246?250 (1974)

3. Beaudet, A. L., DiFerrante, N. M., Ferry, G. D., Nichols, B. L., Mullins, Ch. E.: Variation in the phenotypic expression of ?-glucuronidase deficiency. J. Ped. 86, 388?394 (1975)

4. Cantz, M., Kresse, H., Barton, R. W., Neufeld, E. F.: In: Methods in enzymology, V. Ginsburg, ed. Vol. 28, pp. 884?896. New York: Academic Press, 1972

5. Danes, Sh. B., Degnan, M.: Different clinical and biochemical phenotypes associated with ?-glucuronidase deficiency. Birth Defects: Orig. Art. Ser. X, 12, 251?257 (1974)

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