RECENT PROGRESS OF LYSOSOMAL DISEASES

[1] HETEROZYGOSITY FOR PHOSPHODIESTER GLYCOSIDASE DEFICIENCY - A NOVEL HUMAN MUTATION OF LYSOSOMAL-ENZYME PROCESSING [J]. HUMAN GENETICS, 1986, 73 (01) : 53 - 59

[2] AB-VARIANT OF INFANTILE GM2 GANGLIOSIDOSIS - DEFICIENCY OF A FACTOR NECESSARY FOR STIMULATION OF HEXOSAMINIDASE A-CATALYZED DEGRADATION OF GANGLIOSIDE GM2 AND GLYCOLIPID GA2 [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (08) : 3979 - 3983

[3] MOLECULAR DEFECT IN COMBINED BETA-GALACTOSIDASE AND NEURAMINIDASE DEFICIENCY IN MAN [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (15): : 4535 - 4539

[4] DAZZO A, 1984, J BIOL CHEM, V259, P1070

[5] Desnick R J, 1982, Prog Clin Biol Res, V94, P27

[6] Durand P., 1982, GENETIC ERRORS GLYCO

[7] ACTIVATOR OF CEREBROSIDE SULFATASE - PURIFICATION FROM HUMAN LIVER AND IDENTIFICATION AS A PROTEIN [J]. HOPPE-SEYLERS ZEITSCHRIFT FUR PHYSIOLOGISCHE CHEMIE, 1975, 356 (05): : 605 - 613

[8] MOLECULAR-CLONING OF A CDNA FOR HUMAN ALPHA-L-FUCOSIDASE [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (04) : 1262 - 1265

[9] CYSTINE TRANSPORT IS DEFECTIVE IN ISOLATED LEUKOCYTE LYSOSOMES FROM PATIENTS WITH CYSTINOSIS [J]. SCIENCE, 1982, 217 (4566) : 1263 - 1265

[10] CANINE FUCOSIDOSIS - A BIOCHEMICAL AND GENETIC INVESTIGATION [J]. RESEARCH IN VETERINARY SCIENCE, 1984, 36 (03) : 354 - 359

[1] HETEROZYGOSITY FOR PHOSPHODIESTER GLYCOSIDASE DEFICIENCY - A NOVEL HUMAN MUTATION OF LYSOSOMAL-ENZYME PROCESSING [J]. HUMAN GENETICS, 1986, 73 (01) : 53 - 59

[2] AB-VARIANT OF INFANTILE GM2 GANGLIOSIDOSIS - DEFICIENCY OF A FACTOR NECESSARY FOR STIMULATION OF HEXOSAMINIDASE A-CATALYZED DEGRADATION OF GANGLIOSIDE GM2 AND GLYCOLIPID GA2 [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (08) : 3979 - 3983

[3] MOLECULAR DEFECT IN COMBINED BETA-GALACTOSIDASE AND NEURAMINIDASE DEFICIENCY IN MAN [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (15): : 4535 - 4539

[4] DAZZO A, 1984, J BIOL CHEM, V259, P1070

[5] Desnick R J, 1982, Prog Clin Biol Res, V94, P27

[6] Durand P., 1982, GENETIC ERRORS GLYCO

[7] ACTIVATOR OF CEREBROSIDE SULFATASE - PURIFICATION FROM HUMAN LIVER AND IDENTIFICATION AS A PROTEIN [J]. HOPPE-SEYLERS ZEITSCHRIFT FUR PHYSIOLOGISCHE CHEMIE, 1975, 356 (05): : 605 - 613

[8] MOLECULAR-CLONING OF A CDNA FOR HUMAN ALPHA-L-FUCOSIDASE [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (04) : 1262 - 1265

[9] CYSTINE TRANSPORT IS DEFECTIVE IN ISOLATED LEUKOCYTE LYSOSOMES FROM PATIENTS WITH CYSTINOSIS [J]. SCIENCE, 1982, 217 (4566) : 1263 - 1265

[10] CANINE FUCOSIDOSIS - A BIOCHEMICAL AND GENETIC INVESTIGATION [J]. RESEARCH IN VETERINARY SCIENCE, 1984, 36 (03) : 354 - 359