1. Defect in Hurler's and Hunter's syndromes; faulty degradation of mucopolysaccharide;Fratantoni, J.C.; Hall, C.W.; Neufeld, E.F.;Proceedings of the National Academy of Sciences of the,1968
2. Use of dithiothreitol to correct cystine storage in cultured cystinotic fibroblasts;Goldman, H.; Scriver, C.R.; Aaron, K.; Pinsky, L.;Lancet,1970
3. Cystinosis: quantitative assay of cystine accumulation of homozygotes and heterozygotes;Kroll, W.; Lichte, K.-H.; Lutz, P.; Maurer, R.;Humangenetik,1973
4. Role of amniocentesis in the intrauterine detection of genetic disorders. New England J7ournal of;Nadler, H.L.; Gerbie, A.B.;Medicine,1970
5. Increased cystine in leucocytes from individuals homozygous and heterozygous for cystinosis;Schneider, J.A.; Bradley, K.; Seegmiller, J.E.;Science,1967