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Article

Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

1 Mar 2000

Abstract excerpt

Mucolipidosis IIIC, or variant pseudo-Hurler polydystrophy, is an autosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (N-Acetylglucosamine-1-phosphotransferase [GlcNAc-phosphotransferase]) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Bovine...

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Calcium signaling and nucleotide metabolism
Lysosomal Storage Disorders Research
Trypanosoma species research and implications

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 10712439
DOI: 10.1172/jci5826

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