Molecular order in mucolipidosis II and III nomenclature-Reference-Cited by-同舟云学术

Molecular order in mucolipidosis II and III nomenclature

Published:2008 Issue:4 Volume:146A Page:512-513
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Cathey Sara S.,Kudo Mariko,Tiede Stephan,Raas-Rothschild Annick,Braulke Thomas,Beck Michael,Taylor Harold A.,Canfield William M.,Leroy Jules G.,Neufeld Elizabeth F.,McKusick Victor A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. Bovine UDP-N-acetylglucosamine:Lysosomal-enzyme N-Acetylglucosamine-1-phosphotransferase I

2. Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues.

3. Enzymatic phosphorylation of lysosomal enzymes in the presence of UDP-N-acetylglucosamine. Absence of the activity in l-cell fibroblasts

4. Mucolipidosis III is genetically heterogeneous.

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