Genetic heterogeneity in metachromatic leukodystrophy.

X-LINKED ICHTHYOSIS DUE TO STEROID-SULPHATASE DEFICIENCY

L J Shapiro, Roberta Weiss, Dianne Webster et al. · The Lancet · 1978 · 324 citations

Life Sciences, Biochemistry, Endocrinology +7

AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2.

Ernst Conzelmann, Konrad Sandhoff · Proceedings of the National Academy of Sciences · 1978 · 276 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

Gaucher's Disease: Deficiency of “cid”β-Glucosidase and Reconstitution of Enzyme Activity <i>In Vitro</i>

Mae Wan Ho, John S. O’Brien · Proceedings of the National Academy of Sciences · 1971 · 259 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14

Prenatal diagnosis of genetic disease in Canada: report of a collaborative study.

Nancy E. Simpson, Louis Dallaire, James R. Miller et al. · PubMed · 1976 · 244 citations

Medicine, Genetics, Obstetrics +13

The Defect in the Hunter Syndrome: Deficiency of Sulfoiduronate Sulfatase

Gideon Bach, Frank Eisenberg, Michael Cantz et al. · Proceedings of the National Academy of Sciences · 1973 · 231 citations · Full text

Life Sciences, Biochemistry, Pathobiology +12