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Sialidase (α-N-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia

  • Published:2008-04-23 Issue:4 Volume:13 Page:369-379
  • ISSN:0009-9163
  • Container-title:Clinical Genetics
  • language:en
  • Short-container-title:

Author:

Thomas George H.,Tipton Robert E.,Ch'ien Lawrence T.,Reynolds Linda W.,Miller Carol S.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference44 articles.

1. Ocular lesions related to disturbances in fat metabolism;Anderson;Amer. J. Ophthalmol.,1958

2. Digestive activity of lysosomes. II The digestion of macromolecular carbohydrates by extracts of rat liver lysosomes;Aronson;J. biol. Chem.,1968

3. The defect in the Hurler and Scheie syndromes: deficiency of α-L-iduronidase;Bach;Proc. nat. Acad. Sci. (Wash.),1972

4. The assay of arylsulphatases A and B in human urine;Baum;Clin. chim. Acta,1959

5. β-Glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease;Beutler;Amer. J. hum. Genet.,1971

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