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This Article:
A. D'Azzo, A. Hoogeveen, A. J. J. Reuser, D. Robinson, and H. Galjaard
Molecular Defect in Combined ß -galactosidase and Neuraminidase Deficiency in Man
PNAS 1982 79: 4535-4539.
Molecular Defect in Combined ß -galactosidase and Neuraminidase Deficiency in Man
PNAS 1982 79: 4535-4539.
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Mutational Analysis of the Defective Protease in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a Neurodegenerative
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Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis Amelia Morrone, Hans Morreau, Xiao Yan Zhou, Enrico Zammarchi, Wim J. Kleijer, Hans Galjaard, and Alessandra d'Azzo Human Mutation (1994) 3: 112 Link to Article |
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patient with late infantile onset form Pietro Strisciuglio, William S. Sly, W. Edwin Dodson, William H. McAlister, and Thomas C. Martin American Journal of Medical Genetics (1990) 37: 573 Link to Article |
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Disorders of glycoprotein degradation M. Cantz and B. Ulrich-Bott Journal of Inherited Metabolic Disease (1990) 13: 523 Link to Article |
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Enzyme-replacement therapy: Problems and prospects B. Rademaker and J. Raber Pharmaceutisch Weekblad Scientific Edition (1989) 11: 137 Link to Article |
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Inherited lysosomal storage disease associated with deficiencies of β-galactosidase and α-neuraminidase in sheep Amelia J. Ahern-Rindell, David J. Prieur, Robert D. Murnane, Srinivasa S. Raghavan, Peter F. Daniel, Robert H. McCluer, Steven U. Walkley, Steven M. Parish, John M. Opitz, and James F. Reynolds American Journal of Medical Genetics (1988) 31: 39 Link to Article |
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Juvenile galactosialidosis in a white male: A new variant David Chitayat, Derek A. Applegarth, Joyce Lewis, James E. Dimmick, Andrew Q. McCormick, Judith G. Hall, John M. Opitz, and James F. Reynolds American Journal of Medical Genetics (1988) 31: 887 Link to Article |
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Storage of sialic acid-containing carbohydrates in the placenta of a human galactosialidosis fetus. Isolation and structural
characterization of 16 sialyloligosaccharides Johannes PELT, J. Albert KUIK, Johannis P. KAMERLING, Johannes F. G. VLIEGENTHART, Otto P. DIGGELEN, and Hans GALJAARD European Journal of Biochemistry (1988) 177: 327 Link to Article |
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The presence of a reduced amount of 32-kd “protective” protein is a distinct biochemical finding in late infantile galactosialidosis P. Strisciuglio, G. Parenti, C. Giudice, S. Lijoi, A. T. Hoogeveen, and A. d'Azzo Human Genetics (1988) 80: 304 Link to Article |
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Lack of proteolytic processing of α-L-fucosidase in human skin fibroblasts Debra M. Leibold, Cynthia B. Robinson, Thomas F. Scanlin, and Mary Catherine Glick Journal of Cellular Physiology (1988) 137: 411 Link to Article |
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α-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder O. P. Diggelen, D. Schindler, R. Willemsen, M. Boer, W. J. Kleijer, J. G. M. Huijmans, W. Blom, and H. Galjaard Journal of Inherited Metabolic Disease (1988) 11: 349 Link to Article |
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Zentralnervöse Sphingolipid-Speicherkrankheiten Konrad Sandhoff and Lothar Quintern Naturwissenschaften (1988) 75: 123 Link to Article |
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Prenatal diagnosis of galactosialidosis A. C. Sewell and B. F. Pontz Prenatal Diagnosis (1988) 8: 151 Link to Article |
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Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: A comparative study
with lysosomal enzymes and the mannose 6-phosphate receptor R. Willemsen, M. Kroos, A. T. Hoogeveen, J. M. Dongen, G. Parenti, C. M. Loos, and A. J. J. Reuser The Histochemical Journal (1988) 20: 41 Link to Article |
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Purification and partial characterization of lysosomal neuraminidase from human placenta Frans W. VERHEIJEN, Silvia PALMERI, and Hans GALJAARD European Journal of Biochemistry (1987) 162: 63 Link to Article |
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Purification and characterization of sialic acid containing materials accumulated in cultured skin fibroblasts from a patient
with type II sialidosis J. R. Scocca, G. H. Thomas, C. Miller, and L. Reynolds Journal of Inherited Metabolic Disease (1987) 10: 33 Link to Article |
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Biochemical diagnosis of genetic disease H. Galjaard Experientia (1986) 42: 1075 Link to Article |
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Human biochemical genetics of enzyme proteins in the new age of molecular genetics D. M. Swallow and D. A. Hopkinson Journal of Inherited Metabolic Disease (1986) 9: 17 Link to Article |
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Human placental neuraminidase. Activation, stabilization and association with beta-galactosidase and its 'protective' protein Frans W. VERHEIJEN, Silvia PALMERI, Andre T. HOOGEVEEN, and Hans GALJAARD European Journal of Biochemistry (1985) 149: 315 Link to Article |
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Carrier detection of sialidosis with partial β-galactosidase deficiency by the assay of lysosomal sialidase in lymphocytes Shoji Tsuji, Takamichi Yamada, Toshio Ariga, Itaru Toyoshima, Haruyasu Yamaguchi, Yoshisuke Kitahara, Tadashi Miyatake, and Tamio Yamakawa Annals of Neurology (1984) 15: 181 Link to Article |
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The structure of sialyl-glycopeptides of the O-glycosidic type, isolated from sialidosis (mucolipidosis I) urine Daniel LECAT, Marguerite LEMONNIER, Christian DERAPPE, Michel LHERMITTE, Herman HALBEEK, Lambertus DORLAND, and Johannes F. G. VLIEGENTHART European Journal of Biochemistry (1984) 140: 415 Link to Article |
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Rat-liver lysosomal sialidase. Solubilization, substrate specificity and comparison with the cytosolic sialidase Taeko MIYAGI and Shigeru TSUIKI European Journal of Biochemistry (1984) 141: 75 Link to Article |
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Infantile type 2 sialidosis in a Pakistani family — a clinical and biochemical study M. King, F. Cockburn, G. B. MacPhee, and R. W. Logan Journal of Inherited Metabolic Disease (1984) 7: 91 Link to Article |
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GM1-gangliosidosis: A molecular abnormality of acid β-galactosidase in fibroblasts T. Furuya and Y. Suzuki Journal of Inherited Metabolic Disease (1984) 7: 145 Link to Article |
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Morquio B syndrome: A primary defect in β-galactosidase Gijsbertus T. J. van der Horst, Wim J. Kleijer, André T. Hoogeveen, Jan G. M. Huijmans, Wim Blom, and Otto P. van Diggelen American Journal of Medical Genetics (1983) 16: 261 Link to Article |
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Galactosialidosis (β-Galactosidase - Neuraminidase Deficiency): A New Hereditary Metabolic Disease with Abnormal Degradation
of Enzyme Molecules Yoshiyuki Suzuki, Hitoshi Sakuraba, Tatsuhiro Yamanaka, You-Min Ko, and Yuko Okamura Pediatrics International (1983) 25: 31 Link to Article |
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