Hydrops Fetalis: Lysosomal Storage Disorders In Extremis

CASE RECORDS OF THE MASSACHUSETTS GENERAL HOSPITAL. CASE 7-1964.

B Castleman · PubMed · 1963 · 1.5K citations

Medicine, Internal Medicine, Surgery +10

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Eugene D. Carstea, Jill A. Morris, Katherine Coleman et al. · Science · 1997 · 1.5K citations

Life Sciences, Genetics, Molecular Biology +17

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

William S. Sly, Barbara A. Quinton, William H. McAlister et al. · The Journal of Pediatrics · 1973 · 508 citations

Life Sciences, Biochemistry, Pathobiology +9

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

Victor L. J. Tybulewicz, Michel L. Tremblay, LaMarca et al. · Nature · 1992 · 306 citations

Life Sciences, Genetics, Molecular Genetics +10

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.

Walter M. Holleran, Edward I. Ginns, Gopinathan K. Menon et al. · Journal of Clinical Investigation · 1994 · 291 citations · Full text

Medicine, Biochemistry, Dermatology +13