PubRank

J J Hopwood

Author PubWeight™ 226.37‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Prevalence of lysosomal storage disorders. JAMA 1999 9.06
2 Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. Somat Cell Mol Genet 1991 2.23
3 Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase. Hum Genet 1989 1.95
4 Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci U S A 1990 1.91
5 Glycosaminoglycan synthesis by cultured human skin fibroblasts after transformation with simian virus 40. J Biol Chem 1977 1.77
6 A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology 1999 1.67
7 Diagnosis of Maroteaux-Lamy syndrome by the use of radiolabelled oligosaccharides as substrates for the determination of arylsulphatase B activity. Biochem J 1986 1.61
8 Genetic mapping of new RFLPs at Xq27-q28. Genomics 1991 1.60
9 Structure of a human lysosomal sulfatase. Structure 1997 1.57
10 Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat 1995 1.54
11 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Hum Mutat 2001 1.52
12 Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties. Biochem J 1990 1.50
13 Human alpha-L-iduronidase: cDNA isolation and expression. Proc Natl Acad Sci U S A 1991 1.48
14 The molecular-weight distribution of glycosaminoglycans. Biochem J 1973 1.48
15 alpha-L-iduronidase, beta-D-glucuronidase, and 2-sulfo-L-iduronate 2-sulfatase: preparation and characterization of radioactive substrates from heparin. Carbohydr Res 1979 1.45
16 High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses. Anal Biochem 1982 1.43
17 Enzymatic diagnosis of the mucopolysaccharidoses: experience of 96 cases diagnosed in a five-year period. Med J Aust 1982 1.41
18 Coexistence of Gaucher disease type 1 and Joubert syndrome. J Med Genet 1998 1.40
19 Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study. Clin Genet 2009 1.39
20 Human alpha-L-iduronidase. 1. Purification, monoclonal antibody production, native and subunit molecular mass. Eur J Biochem 1985 1.39
21 Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. Hum Mol Genet 2001 1.36
22 The alkaline cleavage and borohydride reduction of cartilage proteoglycan. Biochem J 1973 1.36
23 Human N-acetylgalactosamine-4-sulphate sulphatase. Purification, monoclonal antibody production and native and subunit Mr values. Biochem J 1987 1.34
24 Human liver sulphamate sulphohydrolase. Determinations of native protein and subunit Mr values and influence of substrate agylcone structure on catalytic properties. Biochem J 1986 1.33
25 Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. Am J Hum Genet 1994 1.33
26 Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase. Biochem J 1992 1.32
27 Structure and sequence of the human alpha-L-iduronidase gene. Genomics 1992 1.32
28 A strategy for rapid sequencing of heparan sulfate and heparin saccharides. Proc Natl Acad Sci U S A 1999 1.27
29 A fluorometric assay using 4-methylumbelliferyl alpha-L-iduronide for the estimation of alpha-L-iduronidase activity and the detection of Hurler and Scheie syndromes. Clin Chim Acta 1979 1.27
30 Highly sensitive sequencing of the sulfated domains of heparan sulfate. J Biol Chem 1999 1.27
31 The alkali-labile linkage between keratan sulphate and protein. Biochem J 1974 1.27
32 Human alpha-L-iduronidase. 2. Catalytic properties. Eur J Biochem 1985 1.26
33 Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J Clin Invest 1996 1.24
34 Immunopurification and characterization of human alpha-L-iduronidase with the use of monoclonal antibodies. Biochem J 1989 1.24
35 Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). Hum Mol Genet 1996 1.22
36 The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity. Clin Chim Acta 1981 1.22
37 Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem 2001 1.22
38 Human liver N-acetylglucosamine-6-sulphate sulphatase. Purification and characterization. Biochem J 1987 1.21
39 Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet 1994 1.18
40 Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta Paediatr Suppl 2005 1.18
41 Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. Am J Hum Genet 1993 1.18
42 Recombinant human iduronate-2-sulphatase: correction of mucopolysaccharidosis-type II fibroblasts and characterization of the purified enzyme. Biochem J 1993 1.17
43 Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Eur J Hum Genet 1999 1.17
44 A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. Hum Mutat 1992 1.17
45 Diagnosis of Sanfilippo type A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate. Clin Chim Acta 1982 1.17
46 Human liver N-acetylglucosamine-6-sulphate sulphatase. Catalytic properties. Biochem J 1987 1.16
47 Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome. Hum Genet 1991 1.15
48 Biochemical discrimination of Hurler and Scheie syndromes. Clin Sci (Lond) 1979 1.13
49 Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. Nat Genet 1995 1.13
50 alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. Hum Mutat 1992 1.12
51 Enzyme replacement therapy in a feline model of MPS VI: modification of enzyme structure and dose frequency. Pediatr Res 2000 1.12
52 alpha-L-Iduronidase deficiency in mucopolysaccharidosis type I against a radiolabelled sulfated disaccharide substrate derived from dermatan sulfate. Clin Genet 1984 1.10
53 Selective depolymerisation of heparin to produce radio-labelled substrates for sulfamidase, 2-acetamido-2-deoxy-alpha-D-glucosidase, acetyl-CoA:2-amino-2-deoxy-alpha-D-glucoside N-acetyltransferase, and 2-acetamido-2-deoxy-D-glucose 6-sulfate sulfatase. Carbohydr Res 1981 1.10
54 Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. J Biol Chem 1989 1.10
55 Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. Hum Mutat 2004 1.09
56 Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase. Biochem Biophys Res Commun 1988 1.09
57 Human N-acetylgalactosamine-4-sulphatase biosynthesis and maturation in normal, Maroteaux-Lamy and multiple-sulphatase-deficient fibroblasts. Biochem J 1990 1.09
58 Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. J Clin Invest 1997 1.08
59 A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases. Biochem J 1992 1.07
60 Detection of Morquio A syndrome using radiolabelled substrates derived from keratan sulphate for the estimation of galactose 6-sulphate sulphatase. Clin Sci (Lond) 1983 1.07
61 Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3. Am J Hum Genet 1990 1.05
62 The structure and composition of cartilage keratan sulphate. Biochem J 1974 1.04
63 Effect of high dose, repeated intra-cerebrospinal fluid injection of sulphamidase on neuropathology in mucopolysaccharidosis type IIIA mice. Genes Brain Behav 2008 1.04
64 Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies. Biochim Biophys Acta 1998 1.04
65 Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS. Mol Genet Metab 1998 1.03
66 A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant. Glycobiology 2001 1.02
67 Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome. Am J Hum Genet 1992 1.02
68 Analysis of N-acetylgalactosamine-4-sulfatase protein and kinetics in mucopolysaccharidosis type VI patients. Am J Hum Genet 1991 1.01
69 Studies on the polydispersity and heterogeneity of cartilage proteoglycans. Identification of 3 proteoglycan structures in bovine nasal cartilage. Biochem J 1975 1.01
70 Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 1993 1.00
71 Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients. Am J Hum Genet 1996 1.00
72 N-acetylglucosamine 6-sulfate residues in keratan sulfate and heparan sulfate are desulfated by the same enzyme. Biochem Int 1983 1.00
73 Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease. J Biol Chem 1996 0.99
74 Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase. Eur J Biochem 1995 0.99
75 Human liver glucuronate 2-sulphatase. Purification, characterization and catalytic properties. Biochem J 1989 0.99
76 Improved concanavalin A-Sepharose elution by specific readsorption of glycoproteins. J Chromatogr 1983 0.99
77 Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B. J Biol Chem 1994 0.99
78 Radiolabelled oligosaccharides as substrates for the estimation of sulfamidase and the detection of the Sanfilippo type A syndrome. Clin Chim Acta 1981 0.98
79 alpha-L-iduronidase in normal and mucopolysaccharidosis-type-I human skin fibroblasts. Biochem J 1991 0.98
80 Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy. Hum Mol Genet 2001 0.98
81 Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum Mutat 2001 0.97
82 Sequence analysis of heparan sulphate and heparin oligosaccharides. Biochem J 1999 0.97
83 Expression, purification and characterization of recombinant caprine N-acetylglucosamine-6-sulphatase. Biochem J 1997 0.97
84 Histomorphometric analysis of the tibial growth plate in a feline model of mucopolysaccharidosis type VI. Calcif Tissue Int 1999 0.97
85 Sequence of the human iduronate 2-sulfatase (IDS) gene. Genomics 1993 0.97
86 Biochemical profiling to predict disease severity in metachromatic leukodystrophy. Mol Genet Metab 2009 0.97
87 Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker. Clin Chem 1997 0.97
88 Delivery of recombinant proteins via the cerebrospinal fluid as a therapy option for neurodegenerative lysosomal storage diseases. Int J Clin Pharmacol Ther 2009 0.96
89 Enzyme replacement therapy in Mucopolysaccharidosis VI: evidence for immune responses and altered efficacy of treatment in animal models. Biochim Biophys Acta 1997 0.96
90 Human alpha-L-fucosidase: complete coding sequence from cDNA clones. Biochem Biophys Res Commun 1989 0.96
91 Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. J Inherit Metab Dis 2012 0.95
92 Molecular defects in Sanfilippo syndrome type A. Hum Mol Genet 1997 0.95
93 Selective depolymerisation of dermatan sulfate: production of radiolabelled substrates for alpha-L-iduronidase, sulfoiduronate sulfatase, and beta-D-glucuronidase. Carbohydr Res 1983 0.95
94 Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II. Am J Med Genet 1992 0.95
95 Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabeled monosulfated disaccharide substrate. Anal Biochem 1989 0.95
96 Selective depolymerisation of keratan sulfate: production of radiolabelled substrates for 6-O-sulfogalactose sulfatase and beta-D-galactosidase. Carbohydr Res 1983 0.94
97 Immunolocation analysis of glycosaminoglycans in the human growth plate. J Histochem Cytochem 1992 0.94
98 The concentration of hyaluronate in amniotic fluid. Biochem Med 1983 0.94
99 The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3. Am J Hum Genet 1993 0.94
100 Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations. Hum Mutat 1994 0.94
101 Overexpression of N-acetylgalactosamine-4-sulphatase induces a multiple sulphatase deficiency in mucopolysaccharidosis-type-VI fibroblasts. Biochem J 1993 0.94
102 Diagnostic enzymology of alpha-L-iduronidase with special reference to a sulphated disaccharide derived from heparin. Clin Sci (Lond) 1982 0.94
103 Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14. Hum Genet 1988 0.94
104 Urinary excretion of sulphated N-acetylhexosamines in patients with various mucopolysaccharidoses. Biochem J 1985 0.93
105 Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome. Am J Cardiol 2001 0.93
106 An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype. Hum Mutat 1992 0.93
107 Mutations among Italian mucopolysaccharidosis type I patients. J Inherit Metab Dis 1997 0.93
108 Lysosomal biogenesis in lysosomal storage disorders. Exp Cell Res 1997 0.93
109 Detection of the Sanfilippo type B syndrome using radiolabelled oligosaccharides as substrates for the estimation of alpha-N-acetylglucosaminidase. Clin Chim Acta 1982 0.93
110 Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones. Biochem Int 1991 0.93
111 Recombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts. Biochem J 1994 0.93
112 Correction of Sanfilippo A skin fibroblasts by retroviral vector-mediated gene transfer. Hum Gene Ther 1996 0.92
113 Enzyme replacement therapy in mucopolysaccharidosis I: altered distribution and targeting of alpha-L-iduronidase in immunized rats. Mol Genet Metab 2000 0.92
114 Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype. Hum Mol Genet 1993 0.92
115 Absence of hyaluronidase in cultured human skin fibroblasts. Biochem Biophys Res Commun 1975 0.92
116 Saposins A, B, C, and D in plasma of patients with lysosomal storage disorders. Clin Chem 2000 0.91
117 Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele. Hum Genet 1992 0.91
118 Human acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Kinetic characterization and mechanistic interpretation. Biochem J 1995 0.91
119 Isolation and characterization of N-acetylglucosamine 6-sulfate from the urine of a patient with Sanfilippo type D syndrome and its occurrence in normal urine. Biochem Int 1983 0.91
120 Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase. J Inherit Metab Dis 1990 0.91
121 Hyaluronic acid synthesis in a cell-free system from rat fibrosarcoma. Biochem Biophys Res Commun 1974 0.91
122 Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). Hum Mutat 1997 0.91
123 Correction of mucopolysaccharidosis type I fibroblasts by retroviral-mediated transfer of the human alpha-L-iduronidase gene. Hum Gene Ther 1992 0.91
124 Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI. Bone 1997 0.91
125 Human mucopolysaccharidosis IIID: clinical, biochemical, morphological and immunohistochemical characteristics. J Neuropathol Exp Neurol 1997 0.90
126 The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome). Hum Genet 1991 0.90
127 Immune response to enzyme replacement therapy: 4-sulfatase epitope reactivity of plasma antibodies from MPS VI cats. Mol Genet Metab 1999 0.89
128 Altered trafficking and turnover of LAMP-1 in Pompe disease-affected cells. Mol Genet Metab 1999 0.89
129 Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 1992 0.89
130 Human and sheep growth-plate cartilage type X collagen synthesis and the influence of tissue storage. Biochem J 1991 0.89
131 Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. Biochim Biophys Acta 2000 0.89
132 Newborn screening for lysosomal storage disorders. Southeast Asian J Trop Med Public Health 1999 0.89
133 Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. J Clin Invest 1998 0.88
134 Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families. Hum Genet 1993 0.88
135 Hunter syndrome: gene deletions and rearrangements. Hum Mutat 1993 0.88
136 Reimplantation of growth plate chondrocytes into growth plate defects in sheep. J Orthop Res 1990 0.88
137 Human liver N-acetylgalactosamine 6-sulphatase. Purification and characterization. Biochem J 1991 0.88
138 Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Hum Mol Genet 1997 0.88
139 Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. Am J Hum Genet 1992 0.88
140 Recombinant human sulphamidase: expression, amplification, purification and characterization. Biochem J 1998 0.88
141 Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein. Biochem J 1995 0.88
142 Biochemical characterization of patients and prenatal diagnosis of sialic acid storage disease for three families. J Inherit Metab Dis 1988 0.87
143 Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase. Anal Biochem 1984 0.87
144 A specific fluorogenic assay for N-acetylgalactosamine-4-sulphatase activity using immunoadsorption. J Inherit Metab Dis 1991 0.87
145 Radiolabelled disaccharides for the assay of beta-D-glucuronidase activity and the detection of mucopolysaccharidosis type VII. Clin Chim Acta 1982 0.86
146 Prevalence of mucopolysaccharidosis type VI mutations in Siamese cats. J Vet Intern Med 2003 0.86
147 Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. Hum Mutat 1998 0.86
148 Report of a mucopolysaccharidosis occurring in Australian aborigines. J Med Genet 1978 0.86
149 Sulphamidase activity in leucocytes, cultured skin fibroblasts and amniotic cells: diagnosis of the Sanfilippo A syndrome with the use of radiolabelled disaccharide substrate. Clin Sci (Lond) 1981 0.86
150 Glycosaminoglycan synthesis by Wilms' tumor. Pediatr Res 1978 0.86
151 Post- and pre-natal assessment of alpha-L-iduronidase deficiency with a radiolabelled natural substrate. Clin Sci (Lond) 1979 0.85
152 Biosynthesis of glycosaminoglycans in the developing retina. Dev Biol 1977 0.85
153 Immune response to enzyme replacement therapy: clinical signs of hypersensitivity reactions and altered enzyme distribution in a high titre rat model. Biochim Biophys Acta 1998 0.85
154 Expression and characterization of human recombinant and alpha-N-acetylglucosaminidase. Protein Expr Purif 2001 0.84
155 Cellular location of N-acetyltransfer activities toward glucosamine and glucosamine-6-phosphate in cultured human skin fibroblasts. Biochem Int 1983 0.84
156 Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects. Biochim Biophys Acta 2000 0.84
157 Human glucosamine-6-sulphatase deficiency. Diagnostic enzymology towards heparin-derived trisaccharide substrates. Biochem J 1992 0.84
158 Caprine mucopolysaccharidosis-IIID: clinical, biochemical, morphological and immunohistochemical characteristics. J Neuropathol Exp Neurol 1998 0.84
159 Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene. Hum Mol Genet 1992 0.83
160 Autologous transplantation of retrovirally transduced bone marrow or neonatal blood cells into cats can lead to long-term engraftment in the absence of myeloablation. Gene Ther 1999 0.83
161 PCR of a KpnI RFLP in the alpha-L-iduronidase (IDUA) gene. Nucleic Acids Res 1991 0.83
162 Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders. Clin Chem 1998 0.83
163 Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union. Mol Genet Metab 1998 0.82
164 Purification and characterization of recombinant human lysosomal alpha-mannosidase. Mol Genet Metab 2001 0.82
165 Growth-plate chondrocyte cultures for reimplantation into growth-plate defects in sheep. Characterization of cultures. Clin Orthop Relat Res 1990 0.82
166 Acetyl CoA:alpha-glucosaminide N-acetyl transferase: partial purification from human liver. Biochem Int 1983 0.82
167 Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. N Z Vet J 2012 0.82
168 Advantages of using same species enzyme for replacement therapy in a feline model of mucopolysaccharidosis type VI. J Biol Chem 1999 0.82
169 Alpha-mannosidosis in the guinea pig: a new animal model for lysosomal storage disorders. Pediatr Res 1999 0.82
170 Processing of normal lysosomal and mutant N-acetylgalactosamine 4-sulphatase: BiP (immunoglobulin heavy-chain binding protein) may interact with critical protein contact sites. Biochem J 1999 0.82
171 Abnormal gangliosides are localized in lipid rafts in Sanfilippo (MPS3a) mouse brain. Neurochem Res 2012 0.82
172 Two-dimensional mapping and microsequencing of lysosomal proteins from human placenta. Placenta 1998 0.82
173 Structural gene aberrations in mucopolysaccharidosis II (Hunter). Hum Genet 1992 0.82
174 Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow. Proc Natl Acad Sci U S A 1996 0.81
175 Caprine mucopolysaccharidosis IIID: a preliminary trial of enzyme replacement therapy. J Mol Neurosci 2000 0.81
176 An improved method for the purification of IgG monoclonal antibodies from culture supernatants. J Immunol Methods 1992 0.81
177 Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. Clin Chem 2000 0.80
178 Mass spectrometry in the study of lysosomal storage disorders. Cell Mol Biol (Noisy-le-grand) 2003 0.80
179 Correction of alpha-L-fucosidase deficiency in fucosidosis fibroblasts by retroviral vector-mediated gene transfer. Hum Gene Ther 1992 0.80
180 PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene. Hum Genet 1992 0.80
181 Human alpha-L-iduronidase. Catalytic properties and an integrated role in the lysosomal degradation of heparan sulphate. Biochem J 1992 0.80
182 Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity. J Biol Chem 1998 0.80
183 An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus. Genomics 1992 0.80
184 Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe. J Inherit Metab Dis 1992 0.80
185 Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia. N Z Vet J 2000 0.80
186 Cloning and sequence analysis of caprine N-acetylglucosamine 6-sulfatase cDNA. Biochim Biophys Acta 1995 0.80
187 Heparinase activity in rat liver. Biochem Biophys Res Commun 1977 0.80
188 Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome. J Biol Chem 1999 0.80
189 Structure and sequence of the human sulphamidase gene. DNA Res 1996 0.79
190 Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene. Genomics 1994 0.79
191 Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome. Hum Mutat 1996 0.79
192 Purification and characterization of recombinant murine sulfamidase. Mol Genet Metab 2004 0.79
193 Canine fucosidosis: a model for retroviral gene transfer into haematopoietic stem cells. Neuromuscul Disord 1997 0.79
194 PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease. Nucleic Acids Res 1991 0.79
195 Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients. Mol Genet Metab 2001 0.79
196 Hurler syndrome: a patient with abnormally high levels of alpha-L-iduronidase protein. Biochem Med Metab Biol 1992 0.79
197 Sanfilippo D syndrome: correction of glucosamine-6-sulphatase deficiency following fibroblast culture in Chang's media. Prenat Diagn 1991 0.79
198 Mutation analysis of Jewish Hunter patients in Israel. Hum Mutat 1994 0.78
199 Pathology of mucopolysaccharidosis IIIA in Huntaway dogs. Vet Pathol 2007 0.78
200 Isolation of lipid glucuronic acid and N-acetylglucosamine derivatives from a rat fibrosarcoma. Biochem Biophys Res Commun 1977 0.78
201 Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk. J Med Genet 1993 0.78
202 Morphopathological features in tissues of alpha-mannosidosis guinea pigs at different gestational ages. Neuropathol Appl Neurobiol 2007 0.78
203 Lysosomal sulfate efflux following glycosaminoglycan degradation: measurements in enzyme-supplemented Maroteaux-Lamy syndrome fibroblasts and isolated lysosomes. Glycoconj J 1993 0.78
204 Glucuronate-2-sulphatase activity in cultured human skin fibroblast homogenates. Biochem J 1991 0.78
205 Evaluation of fibroblast-mediated gene therapy in a feline model of mucopolysaccharidosis type VI. Biochim Biophys Acta 1999 0.78
206 Structures of five sulfated hexasaccharides prepared from porcine intestinal heparin using bacterial heparinase. Structural variants with apparent biosynthetic precursor-product relationships for the antithrombin III-binding site. J Biol Chem 1996 0.78
207 Regulation of the lysosome-associated membrane protein in a sucrose model of lysosomal storage. Exp Cell Res 2000 0.77
208 Glycosidase active site mutations in human alpha-L-iduronidase. Glycobiology 2001 0.77
209 Crystallization and preliminary characterization of human recombinant N-acetylgalactosamine-4-sulfatase. Acta Crystallogr D Biol Crystallogr 1995 0.77
210 Behavioural characterisation of the alpha-mannosidosis guinea pig. Behav Brain Res 2007 0.77
211 Primary culture of neural cells isolated from the cerebellum of newborn and adult mucopolysaccharidosis type IIIA mice. Cell Mol Neurobiol 2008 0.77
212 The implantation of cartilaginous and periosteal tissue into growth plate defects. Int Orthop 1994 0.77
213 Immunochemical characterization of feline and human N-acetylgalactosamine 4-sulfatase. Biochem Med Metab Biol 1994 0.77
214 Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes. Genomics 1992 0.76
215 Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands. J Inherit Metab Dis 1998 0.76
216 Organ-specific over-sulfation of glycosaminoglycans and altered extracellular matrix in a mouse model of cystic fibrosis. Biochem Mol Med 1997 0.76
217 Exocytosis is impaired in mucopolysaccharidosis IIIA mouse chromaffin cells. Neuroscience 2012 0.76
218 A membrane protein primarily associated with the lysosomal compartment. Biochim Biophys Acta 1997 0.76
219 Enhanced channelling of sulphate through a rapidly exchangeable sulphate pool in response to stimulated glycosaminoglycan synthesis in pancreatic epithelial cells. Biochim Biophys Acta 1999 0.76
220 Metaphyseal factors promote calcium incorporation in physeal chondrocyte cultures. J Orthop Sci 2000 0.76
221 Receptor mediated binding of two glycosylation forms of N-acetylgalactosamine-4-sulphatase. Biochim Biophys Acta 1998 0.76
222 Bovine mucopolysaccharidosis type IIIB. J Inherit Metab Dis 2007 0.76
223 Sanfilippo syndrome type D in two adolescent sisters. J Med Genet 1991 0.76
224 Pilot neonatal screening program for lysosomal storage disorders, using lamp-1. Southeast Asian J Trop Med Public Health 1999 0.75
225 Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes. Mamm Genome 1992 0.75
226 Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene. Hum Genet 1993 0.75
227 Towards gene therapy of Hurler syndrome. Cas Lek Cesk 1997 0.75
228 In vivo delivery of human alpha-L-iduronidase in mice implanted with neo-organs. Hum Gene Ther 1995 0.75
229 In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer. Gene Ther 1997 0.75
230 Regulation of N-acetylgalactosamine 4-sulfatase expression in retrovirus-transduced feline mucopolysaccharidosis type VI muscle cells. DNA Cell Biol 1999 0.75
231 Management of Chlamydia trachomatis in a women's hospital: a review of current practice. J Fam Plann Reprod Health Care 2001 0.75
232 Over-expression of human lysosomal alpha-mannosidase in mouse embryonic stem cells. Mol Genet Metab 2005 0.75
233 Management of screened chlamydia positive women. Sex Transm Infect 2002 0.75
234 Prenatal diagnosis of lysosomal storage diseases. Review of experience in 145 patient referrals over a period of eight years. Med J Aust 1984 0.75
235 Mucopolysaccharidosis type II (Hunter syndrome): characterization of the iduronate-2-sulphatase in MPS II skin fibroblasts. J Inherit Metab Dis 1994 0.75
236 Feline mucopolysaccharidosis type VI: correction of glycosaminoglycan storage in myoblasts by retrovirus-mediated transfer of the feline N-acetylgalactosamine 4-sulfatase gene. DNA Cell Biol 1997 0.75
237 Development of a two-dimensional gel electrophoresis database of human lysosomal proteins. Electrophoresis 1998 0.75
238 Recombinant canine alpha-l-fucosidase: expression, purification, and characterization. Mol Genet Metab 2000 0.75
239 The ultrastructure of skin from a patient with mucopolysaccharidosis IIID. Acta Neuropathol 1997 0.75
240 Sulfation of chondroitin/dermatan sulfate by cystic fibrosis pancreatic duct cells is not different from control cells. Biochem Mol Med 1997 0.75
241 Survival and engraftment of mouse embryonic stem cell-derived implants in the guinea pig brain. Neurosci Res 2005 0.75
242 Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping. Mamm Genome 2000 0.75
243 Recombinant caprine 3H-[N-acetylglucosamine-6-sulfatase] and human 3H-[N-acetylgalactosamine-4-sulfatase]: plasma clearance, tissue distribution, and cellular uptake in the rat. J Mol Neurosci 1998 0.75
244 Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation. Prenat Diagn 1994 0.75
245 Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease. Jpn J Hum Genet 1997 0.75
246 Sulfate transport in normal and cystic fibrosis fibroblasts. Biochem Med Metab Biol 1992 0.75