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

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]) r...

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Detalhes bibliográficos
Main Authors: Raas-Rothschild, Annick, Cormier-Daire, Valerie, Bao, Ming, Genin, Emmanuelle, Salomon, Remi, Brewer, Kevin, Zeigler, Marsha, Mandel, Hanna, Toth, Steve, Roe, Bruce, Munnich, Arnold, Canfield, William M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2000
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC289169/
https://ncbi.nlm.nih.gov/pubmed/10712439
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