Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients.
Thaddeus E. Kelly(University of Virginia), Edward Ives, Ceres E. Espiritu, Henry Taylor(University of Birmingham), Meinhard Robinow(Wright State University), G. H. Thomas(Kennedy Krieger Institute), M J Bull, Murray Feingold, J H Glaser, V.A. McKusick(University of Baltimore), Luigi Luzzatti, William S. Sly(Saint Louis University), Edward M. Ashenhurst
PubMed
October 1, 1975
Cited by 65
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