Beta glucuronidase deficiency: Report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide.

Joseph C. Fratantoni, C. William Hall, Elizabeth F. Neufeld · Proceedings of the National Academy of Sciences · 1968 · 310 citations

Life Sciences, Biochemistry, Pathobiology +13

Mutant Enzymatic and Cytological Phenotypes in Cultured Human Fibroblasts

Jules G. Leroy, Robert DeMars · Science · 1967 · 244 citations

Medicine, Cell Biology, Pathology +9

THE GENETIC MUCOPOLYSACCHARIDOSES

Victor A. McKusick, David E. Kaplan, David A. Wise et al. · Medicine · 1965 · 234 citations

Life Sciences, Genetics, Molecular Genetics +3

Inborn Errors of Mucopolysaccharide Metabolism

Elizabeth F. Neufeld, Joseph C. Fratantoni · Science · 1970 · 217 citations

Life Sciences, Biochemistry, Molecular Biology +7

Metachromatic Leukodystrophy: Diagnosis with Samples of Venous Blood

Alan K. Percy, Roscoe O. Brady · Science · 1968 · 181 citations

Medicine, Biochemistry, Hematology +6