Biochemical diagnosis of mucopolysaccharidoses: Experience of 297 diagnoses in a 15-year period (1977

Biochemical diagnosis of mucopolysaccharidoses: Experience of 297 diagnoses in a 15-year period (1977–1991)

Published:1993-03 Issue:2 Volume:16 Page:473-483
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Di Natale P.,Annella T.,Daniele A.,De Luca T.,Morabito E.,Pallini R.,Rosario P.,Spagnuolo G.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00710300

Reference41 articles.

1. Andria G, Di Natale P, Del Giudice E, Strisciuglio P, Murino P (1979) Sanfilippo syndrome (MPS III B): mild and severe forms within the same sibship.Clin Genet 15: 500?504.

2. Daniele A, Di Natale P (1987) Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase.Hum Genet 75: 234?238.

3. Di Ferrante N (1967) The measurement of urinary mucopolysaccharides.Anal Biochem 21: 98?106.

4. Di Natale P (1991) Sanfilippo B disease: a re-examination of a particular sibship after 12 years.J Inher Metab Dis 14: 23?28.

5. Di Natale P (1982) Diagnostic approaches for mucopolysaccharidoses, mucolipidoses and related disorders. In Varma RS, Varma R, eds.Glycosaminoglycans and Proteoglycans in Physiological and Pathological Process of Body Systems. Basel: Karger, 316?329.

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