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Items: 2

1.
Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)
Annick Raas-Rothschild, Valerie Cormier-Daire, Ming Bao, Emmanuelle Genin, Remi Salomon, Kevin Brewer, Marsha Zeigler, Hanna Mandel, Steve Toth, Bruce Roe, Arnold Munnich, William M. Canfield
J Clin Invest. 2000 Mar 1; 105(5): 673–681. doi: 10.1172/JCI5826
PMCID:
PMC289169
AbstractArticlePDF–605K
2.
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX
Barbara Triggs-Raine, Timothy J. Salo, Hong Zhang, Brandy A. Wicklow, Marvin R. Natowicz
Proc Natl Acad Sci U S A. 1999 May 25; 96(11): 6296–6300. doi: 10.1073/pnas.96.11.6296
PMCID:
PMC26875
AbstractArticlePDF–213K

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