JUVENILE GALACTOSIALIDOSIS IN A WHITE MALE - A NEW VARIANT

[1] MORQUIO-LIKE SYNDROME WITH BETA GALACTOSIDASE DEFICIENCY AND NORMAL HEXOSAMINE SULFATASE ACTIVITY - MUCOPOLYSACCHARIDOSIS IVB [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1977, 1 (02): : 195 - 205

[2] VARIATION IN PHENOTYPIC EXPRESSION OF BETA-GLUCURONIDASE DEFICIENCY [J]. JOURNAL OF PEDIATRICS, 1975, 86 (03) : 388 - 394

[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] REACTION OF CARBAZOLE WITH CARBOHYDRATES .I. EFFECT OF BORATE AND SULFAMATE ON CARBAZOLE COLOR OF SUGARS [J]. ANALYTICAL BIOCHEMISTRY, 1967, 19 (01) : 119 - &

[5] GENETIC-HETEROGENEITY IN GM1-GANGLIOSIDOSIS [J]. NATURE, 1975, 257 (5521) : 60 - 62

[6] GOTO I, 1979, ADV NEUROL SCI, V23, P1126

[7] GRAVEL RA, 1979, AM J HUM GENET, V31, P669

[8] GROEBE H, 1980, AM J HUM GENET, V32, P258

[9] HIGUCHI M, 1981, Rinsho Ganka, V35, P937

[10] FLUOROMETRIC ASSAY USING 4-METHYLUMBELLIFERYL ALPHA-L-IDURONIDE FOR THE ESTIMATION OF ALPHA-L-IDURONIDASE ACTIVITY AND THE DETECTION OF HURLER AND SCHEIE SYNDROMES [J]. CLINICA CHIMICA ACTA, 1979, 92 (02) : 257 - 265

[1] MORQUIO-LIKE SYNDROME WITH BETA GALACTOSIDASE DEFICIENCY AND NORMAL HEXOSAMINE SULFATASE ACTIVITY - MUCOPOLYSACCHARIDOSIS IVB [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1977, 1 (02): : 195 - 205

[2] VARIATION IN PHENOTYPIC EXPRESSION OF BETA-GLUCURONIDASE DEFICIENCY [J]. JOURNAL OF PEDIATRICS, 1975, 86 (03) : 388 - 394

[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] REACTION OF CARBAZOLE WITH CARBOHYDRATES .I. EFFECT OF BORATE AND SULFAMATE ON CARBAZOLE COLOR OF SUGARS [J]. ANALYTICAL BIOCHEMISTRY, 1967, 19 (01) : 119 - &

[5] GENETIC-HETEROGENEITY IN GM1-GANGLIOSIDOSIS [J]. NATURE, 1975, 257 (5521) : 60 - 62

[6] GOTO I, 1979, ADV NEUROL SCI, V23, P1126

[7] GRAVEL RA, 1979, AM J HUM GENET, V31, P669

[8] GROEBE H, 1980, AM J HUM GENET, V32, P258

[9] HIGUCHI M, 1981, Rinsho Ganka, V35, P937

[10] FLUOROMETRIC ASSAY USING 4-METHYLUMBELLIFERYL ALPHA-L-IDURONIDE FOR THE ESTIMATION OF ALPHA-L-IDURONIDASE ACTIVITY AND THE DETECTION OF HURLER AND SCHEIE SYNDROMES [J]. CLINICA CHIMICA ACTA, 1979, 92 (02) : 257 - 265