Published in Birth Defects Orig Artic Ser on January 01, 1980
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Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease. Proc Natl Acad Sci U S A (1982) 1.61
Formation of galactolipids by chloroplasts. Biochem Biophys Res Commun (1964) 1.61
Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells. Protein Expr Purif (1994) 1.55
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Inhibition of receptor-mediated uptake of a lysosomal enzyme into fibroblasts by chloroquine, procaine and ammonia. Exp Cell Res (1979) 1.49
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Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med (1996) 1.48
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Human kidney alpha-L-iduronidase: purification and characterization. Arch Biochem Biophys (1978) 1.39
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet (1993) 1.38
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Incorporation of D-xylose-C14 into glycoprotein by particles from hen oviduct. Biochem Biophys Res Commun (1966) 1.37
Nonsense-mediated decay of human HEXA mRNA. Mol Cell Biol (2001) 1.35
Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles. Cell Mol Biol (Noisy-le-grand) (1994) 1.34
Scheie and Hurler syndromes: apparent identity of the biochemical defect. Science (1970) 1.30
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics (1992) 1.28
Limited proteolysis of the beta-hexosaminidase precursor in a cell-free system. J Biol Chem (1981) 1.23
A canine model of human alpha-L-iduronidase deficiency. Proc Natl Acad Sci U S A (1983) 1.20
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Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells. Arch Biochem Biophys (1973) 1.18
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A frameshift mutation in a patient with Tay-Sachs disease causes premature termination and defective intracellular transport of the alpha-subunit of beta-hexosaminidase. J Biol Chem (1989) 1.17
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Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals. Pediatr Res (1982) 1.13
Simulation of genetic mucopolysaccharidoses in normal human fibroblasts by alteration of pH of the medium. Proc Natl Acad Sci U S A (1972) 1.13
Biochemical heterogeneity of the Sanfilippo syndrome: preliminary characterization of two deficient factors. Biochem Biophys Res Commun (1971) 1.12
Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency. J Biol Chem (1984) 1.12
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The Hunter corrective factor. Purification and preliminary characterization. J Biol Chem (1972) 1.11
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Normal transcription of the beta-hexosaminidase alpha-chain gene in the Ashkenazi Tay-Sachs mutation. J Biol Chem (1988) 0.95
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Iduronate sulfatase determination for the diagnosis of the Hunter syndrome and the detection of the carrier state. Adv Exp Med Biol (1976) 0.92
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Carbohydrate structures of recombinant human alpha-L-iduronidase secreted by Chinese hamster ovary cells. J Biol Chem (1997) 0.90
Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele. Hum Mutat (1993) 0.89
A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH). Hum Mutat (1993) 0.89
Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase. J Biol Chem (1990) 0.88
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Short-term enzyme replacement in the murine model of Sanfilippo syndrome type B. Mol Genet Metab (2000) 0.85
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Characterization of the factor deficient in the Hunter syndrome by polyacrylamide gel electrophoresis. Biochem Biophys Res Commun (1970) 0.84
Two abnormalities of hexosaminidase A in clinically normal individuals. Am J Hum Genet (1986) 0.83
A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH). Hum Mutat (1994) 0.83
A distinct biochemical deficit in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI). J Pediatr (1972) 0.80
Stimulation of a protein glycosylation reaction by lysozyme. Biochim Biophys Acta (1969) 0.78
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