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Catalytically defective ganglioside neuraminidase in mucolipidosis IV

  • Published:2008-04-23 Issue:6 Volume:21 Page:374-381
  • ISSN:0009-9163
  • Container-title:Clinical Genetics
  • language:en
  • Short-container-title:

Author:

Ben-Yoseph Yoav,Momoi Toru,Hahn Lisa C.,Nadler Henry L.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference33 articles.

1. Abnormal ganglioside accumulation in cultured fibroblasts from patients with mucolipidosis IV;Bach;Biochem. Biophys. Res. Commun.,1975

2. Mucopolysaccharide accumulation in cultured skin fibroblasts derived from patients with mucolipidosis IV;Bdch;Amer. J. hum. Genet.,1977

3. Mucolipidosis type IV: ganglioside sialidase deficiency;Bach;Biochem. Biophys. Res. Commun.,1979a

4. I-cell disease: deficiency of extracellular hydrolase phos-phorylation;Bach;Biochem. Biophys. Res. Commun.,1979b

5. Deficient phosphorylation of man-nose residues of mannan in fibroblasts of patients with mucolipidosis II and III;Ben-Yoseph;Bzochem. J.,1981

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