Published in Science on November 01, 1968
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Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning. Blood (2013) 1.91
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Diabetes mellitus and aging: diminished planting efficiency of cultured human fibroblasts. Proc Natl Acad Sci U S A (1969) 1.78
Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I. J Clin Invest (2008) 1.70
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The pathology of the feline model of mucopolysaccharidosis I. Am J Pathol (1983) 1.20
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Protein replacement therapy partially corrects the cholesterol-storage phenotype in a mouse model of Niemann-Pick type C2 disease. PLoS One (2011) 0.86
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Enzyme replacement therapy by fibroblast transplantation: long-term biochemical study in three cases of Hunter's syndrome. J Clin Invest (1979) 0.83
Gene therapy for the neurological manifestations in lysosomal storage disorders. J Lipid Res (2014) 0.83
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Metabolic adaptations to interrupted glycosaminoglycan recycling. J Biol Chem (2009) 0.83
Optimal therapy in Gaucher disease. Ther Clin Risk Manag (2010) 0.82
Regional assignment of the structural gene for human alpha-L-iduronidase. Proc Natl Acad Sci U S A (1984) 0.82
Increased longevity and metabolic correction following syngeneic BMT in a murine model of mucopolysaccharidosis type I. Bone Marrow Transplant (2011) 0.82
Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy. Ann Neurol (2008) 0.80
Recent advances in gene therapy for lysosomal storage disorders. Appl Clin Genet (2015) 0.79
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Gene therapy for neurologic manifestations of mucopolysaccharidoses. Expert Opin Drug Deliv (2014) 0.79
Dimethyl sulfoxide affects colony morphology on agar and alters distribution of glycosaminoglycans and fibronectin. Proc Natl Acad Sci U S A (1982) 0.79
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease. PLoS One (2011) 0.79
Increased glycosaminoglycan accumulation as a genetic characteristic in cell cultures of one variety of dominant dystrophic epidermolysis bullosa. J Clin Invest (1979) 0.77
Clinical Improvement of Alpha-mannosidosis Cat Following a Single Cisterna Magna Infusion of AAV1. Mol Ther (2015) 0.77
Disease models for the development of therapies for lysosomal storage diseases. Ann N Y Acad Sci (2016) 0.77
Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation. J Inherit Metab Dis (2017) 0.77
The correction of Hunter fibroblasts by exogenous iduronate sulfate sulfatase: biochemical and ultrastructural studies. Am J Hum Genet (1981) 0.77
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Validation of Urinary Glycosaminoglycans in Iranian patients with Mucopolysaccharidase type I: The effect of urine sedimentation characteristics. Iran J Child Neurol (2014) 0.75
Long-term, high-level hepatic secretion of acid α-glucosidase for Pompe disease achieved in non-human primates using helper-dependent adenovirus. Gene Ther (2016) 0.75
Combination Therapies for Lysosomal Storage Diseases: A Complex Answer to a Simple Problem. Pediatr Endocrinol Rev (2016) 0.75
Inborn errors of metabolism: principles and their applications. Can Med Assoc J (1972) 0.75
Hematopoietic Stem Cell Gene Therapy for Storage Disease: Current and New Indications. Mol Ther (2017) 0.75
Replacement therapy in the mucopolysaccharidoses. J Clin Pathol Suppl (R Coll Pathol) (1978) 0.75
Intranasal AAV Mediated Gene Delivery and Expression of Human Iduronidase in the CNS: A Non-invasive and Effective Approach for Prevention of Neurologic Disease in Mucopolysaccharidosis Type I. Hum Gene Ther (2017) 0.75
The potential of exosomes in diagnosis and treatment of inborn errors of metabolism. J Inherit Metab Dis (2014) 0.75
Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight. J Biol Chem (1980) 6.60
Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med (2001) 4.28
A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. Biochem Biophys Res Commun (1972) 4.25
Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts. Cell (1977) 3.79
Two species of lysosomal organelles in cultured human fibroblasts. Cell (1979) 3.64
Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues. J Biol Chem (1980) 3.48
Inherited disorders of lysosomal metabolism. Annu Rev Biochem (1975) 3.26
The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide. Proc Natl Acad Sci U S A (1968) 2.89
A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts. Biochem Biophys Res Commun (1974) 2.83
Biosynthesis and turnover of the mannose 6-phosphate receptor in cultured Chinese hamster ovary cells. J Biol Chem (1983) 2.73
Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet (1972) 2.65
The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase. Proc Natl Acad Sci U S A (1972) 2.32
The transport of lysosomal enzymes. J Supramol Struct (1977) 2.22
SUGAR NUCLEOTIDES IN THE INTERCONVERSION OF CARBOHYDRATES IN HIGHER PLANTS. Proc Natl Acad Sci U S A (1959) 2.03
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain. Proc Natl Acad Sci U S A (1985) 2.03
Direct demonstration of binding of a lysosomal enzyme, alpha-L-iduronidase, to receptors on cultured fibroblasts. Proc Natl Acad Sci U S A (1979) 1.97
Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. Am J Hum Genet (1990) 1.94
Enzymic diagnosis of the genetic mucopolysaccharide storage disorders. Methods Enzymol (1978) 1.89
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci U S A (1973) 1.86
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase. Proc Natl Acad Sci U S A (1989) 1.86
Morphologic study of the internalization of a lysosomal enzyme by the mannose 6-phosphate receptor in cultured Chinese hamster ovary cells. Proc Natl Acad Sci U S A (1981) 1.81
Is there a mechanism for introducing acid hydrolases into liver lysosomes that is independent of mannose 6-phosphate recognition? Evidence from I-cell disease. Biochem Biophys Res Commun (1982) 1.79
Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc Natl Acad Sci U S A (1999) 1.79
Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts. J Biol Chem (1984) 1.75
Corrective factors for inborn errors of mucopolysaccharide metabolism. Ann N Y Acad Sci (1971) 1.65
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
Fibrin sealant: summary of a conference on characteristics and clinical uses. Transfusion (1995) 1.54
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Effects of polymerization on the hypertensive action of diaspirin cross-linked hemoglobin in rats. J Lab Clin Med (1997) 1.52
Inhibition of receptor-mediated uptake of a lysosomal enzyme into fibroblasts by chloroquine, procaine and ammonia. Exp Cell Res (1979) 1.49
Enzyme replacement in a canine model of Hurler syndrome. Proc Natl Acad Sci U S A (1994) 1.49
Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I. Am J Pathol (1982) 1.48
Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med (1996) 1.48
A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts. Arch Biochem Biophys (1973) 1.45
Maturation of alpha-L-iduronidase in cultured human fibroblasts. J Biol Chem (1981) 1.44
The Hurler corrective factor. Purification and some properties. J Biol Chem (1971) 1.43
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The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci U S A (1996) 1.41
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
Considerations of pool size in the manufacture of plasma derivatives. Transfusion (1996) 1.38
Inborn errors of mucopolysaccharide metabolism. Science (1970) 1.38
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
Glycosylation of serine residues by a uridine diphosphate-xylose: protein xylosyltransferase from mouse mastocytoma. Arch Biochem Biophys (1966) 1.20
Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells. Arch Biochem Biophys (1973) 1.18
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet (1977) 1.17
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
An assay for iduronate sulfatase (Hunter corrective factor). Carbohydr Res (1974) 1.16
Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog. J Biol Chem (1992) 1.15
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase. J Biol Chem (1990) 1.15
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene. Am J Hum Genet (1991) 1.14
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
Complex heterosaccharides of animals. Annu Rev Biochem (1969) 1.11
The Hunter corrective factor. Purification and preliminary characterization. J Biol Chem (1972) 1.11
Morphologic and biochemical studies of canine mucopolysaccharidosis I. Am J Pathol (1984) 1.11
Iduronate sulfatase in amniotic fluid: an aid in the prenatal diagnosis of the hunter syndrome. J Pediatr (1977) 1.10
NAGLU mutations underlying Sanfilippo syndrome type B. Am J Hum Genet (1998) 1.08
X-linked Hunter syndrome: the heterozygous phenotype in cell culture. Am J Hum Genet (1977) 1.07
Quantitative assessment of platelet morphology by light scattering: a potential method for the evaluation of platelets for transfusion. J Lab Clin Med (1984) 1.07
Heparin-induced thrombocytopenia: confirmation of diagnosis with in vitro methods. Blood (1975) 1.06
Purification and characterization of recombinant human alpha-N-acetylglucosaminidase secreted by Chinese hamster ovary cells. Protein Expr Purif (2000) 1.06
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Healing of Pseudointimas in Velour-lined, Impermeable Arterial Prostheses. Am J Pathol (1968) 1.04
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alpha-L-iduronidase forms semi-crystalline spherulites with amyloid-like properties. Acta Crystallogr D Biol Crystallogr (2000) 1.01
Transfer of N-acetylneuraminic acid to incomplete glycoproteins associated with microsomes. Biochim Biophys Acta (1966) 1.00
A rapid and sensitive assay for neuraminidase: application to cultured fibroblasts. Anal Biochem (1979) 0.98
Synthesis and maturation of cross-reactive glycoprotein in fibroblasts deficient in arylsulfatase A activity. Biochem Biophys Res Commun (1983) 0.96
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Iduronate sulfatase from human plasma. Methods Enzymol (1982) 0.95
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