Identification of a variant of mucolipidosis III (pseudo Hurler polydystrophy): A catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes

  • A. P. Varki
  • , M. L. Reitman
  • , S. Kornfeld

Research output: Contribution to journalArticlepeer-review

61 Scopus citations

Fingerprint

Dive into the research topics of 'Identification of a variant of mucolipidosis III (pseudo Hurler polydystrophy): A catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes'. Together they form a unique fingerprint.

Keyphrases

Biochemistry, Genetics and Molecular Biology