| Title : Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families - Kleijer_1996_Pediatr.Res_39_1067 |
| Author(s) : Kleijer WJ , Geilen GC , Janse HC , van Diggelen OP , Zhou XY , Galjart NJ , Galjaard H , d'Azzo A |
| Ref : Pediatr Res , 39 :1067 , 1996 |
| Abstract : Kleijer_1996_Pediatr.Res_39_1067 |
| ESTHER : Kleijer_1996_Pediatr.Res_39_1067 |
| PubMedSearch : Kleijer_1996_Pediatr.Res_39_1067 |
| PubMedID: 8725271 |
| Gene_locus related to this paper: human-CTSA |
| Title : A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable - Zhou_1991_EMBO.J_10_4041 |
| Author(s) : Zhou XY , Galjart NJ , Willemsen R , Gillemans N , Galjaard H , d'Azzo A |
| Ref : EMBO Journal , 10 :4041 , 1991 |
| Abstract : Zhou_1991_EMBO.J_10_4041 |
| ESTHER : Zhou_1991_EMBO.J_10_4041 |
| PubMedSearch : Zhou_1991_EMBO.J_10_4041 |
| PubMedID: 1756715 |
| Gene_locus related to this paper: human-CTSA |
| Title : Expression of cDNA encoding the human protective protein associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases - Galjart_1988_Cell_54_755 |
| Author(s) : Galjart NJ , Gillemans N , Harris A , van der Horst GT , Verheijen FW , Galjaard H , d'Azzo A |
| Ref : Cell , 54 :755 , 1988 |
| Abstract : Galjart_1988_Cell_54_755 |
| ESTHER : Galjart_1988_Cell_54_755 |
| PubMedSearch : Galjart_1988_Cell_54_755 |
| PubMedID: 3136930 |
| Gene_locus related to this paper: human-CTSA |
| Title : Galactosialidosis: molecular heterogeneity among distinct clinical phenotypes - Palmeri_1986_Am.J.Hum.Genet_38_137 |
| Author(s) : Palmeri S , Hoogeveen AT , Verheijen FW , Galjaard H |
| Ref : American Journal of Human Genetics , 38 :137 , 1986 |
| Abstract : Palmeri_1986_Am.J.Hum.Genet_38_137 |
| ESTHER : Palmeri_1986_Am.J.Hum.Genet_38_137 |
| PubMedSearch : Palmeri_1986_Am.J.Hum.Genet_38_137 |
| PubMedID: 3080874 |
| Gene_locus related to this paper: human-CTSA |
| Title : The chromosomal localization of human beta-galactosidase revisited: a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22 - Sips_1985_Hum.Genet_69_340 |
| Author(s) : Sips HJ , de Wit-Verbeek HA , De Wit J , Westerveld A , Galjaard H |
| Ref : Hum Genet , 69 :340 , 1985 |
| Abstract : Sips_1985_Hum.Genet_69_340 |
| ESTHER : Sips_1985_Hum.Genet_69_340 |
| PubMedSearch : Sips_1985_Hum.Genet_69_340 |
| PubMedID: 3921454 |
| Gene_locus related to this paper: human-CTSA |
| Title : Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man - D'Azzo_1982_Proc.Natl.Acad.Sci.U.S.A_79_4535 |
| Author(s) : d'Azzo A , Hoogeveen A , Reuser AJ , Robinson D , Galjaard H |
| Ref : Proc Natl Acad Sci U S A , 79 :4535 , 1982 |
| Abstract : D'Azzo_1982_Proc.Natl.Acad.Sci.U.S.A_79_4535 |
| ESTHER : D'Azzo_1982_Proc.Natl.Acad.Sci.U.S.A_79_4535 |
| PubMedSearch : D'Azzo_1982_Proc.Natl.Acad.Sci.U.S.A_79_4535 |
| PubMedID: 6812049 |
| Gene_locus related to this paper: human-CTSA |
| Title : Correction of combined beta-galactosidase\/neuraminidase deficiency in human fibroblasts - |
| Author(s) : Hoogeveen A , d'Azzo A , Brossmer R , Galjaard H |
| Ref : Biochemical & Biophysical Research Communications , 103 :292 , 1981 |
| PubMedID: 6797429 |
| Gene_locus related to this paper: human-CTSA |
| Title : Genetic heterogeneity in human neuraminidase deficiency - Hoogeveen_1980_Nature_285_500 |
| Author(s) : Hoogeveen AT , Verheijen FW , d'Azzo A , Galjaard H |
| Ref : Nature , 285 :500 , 1980 |
| Abstract : Hoogeveen_1980_Nature_285_500 |
| ESTHER : Hoogeveen_1980_Nature_285_500 |
| PubMedSearch : Hoogeveen_1980_Nature_285_500 |
| PubMedID: 6772959 |
| Gene_locus related to this paper: human-CTSA |