Published in N Engl J Med on January 11, 1973
The mucopolysaccharidoses (a review). Proc Natl Acad Sci U S A (1976) 1.60
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency? Am J Hum Genet (1977) 1.17
Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight. J Biol Chem (1980) 6.60
Teratogenicity of high vitamin A intake. N Engl J Med (1995) 5.53
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
Prenatal genetic diagnosis. I. N Engl J Med (1970) 3.67
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
Maternal serum AFP secreening. N Engl J Med (1978) 3.17
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
Threatened survival of academic-based genetic laboratory services. Am J Hum Genet (1992) 2.65
Allelism, non-allelism, and genetic compounds among the mucopolysaccharidoses. Lancet (1972) 2.65
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature (1992) 2.63
Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science (1968) 2.40
The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase. Proc Natl Acad Sci U S A (1972) 2.32
Prenatal genetic diagnosis (second of three parts). N Engl J Med (1970) 2.29
Prenatal diagnosis of neural tube defects. III. A reevaluation of the alpha-fetoprotein assay. Obstet Gynecol (1977) 2.24
The transport of lysosomal enzymes. J Supramol Struct (1977) 2.22
Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. JAMA (1992) 2.11
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
Methotrexate-induced congenital malformations. J Pediatr (1968) 2.00
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
Results and benefits of a maternal serum alpha-fetoprotein screening program. JAMA (1984) 1.82
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
Duty to re-contact. Genet Med (2001) 1.80
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
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Hum Genet (1993) 1.64
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
Agenesis or hypoplasia of major salivary and lacrimal glands. Am J Med Genet (1990) 1.57
Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells. Protein Expr Purif (1994) 1.55
The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation. Proc Natl Acad Sci U S A (1969) 1.53
METABOLISM OF MYO-INOSITOL IN PLANTS: CONVERSION TO PECTIN, HEMICELLULOSE, D-XYLOSE, AND SUGAR ACIDS. Proc Natl Acad Sci U S A (1962) 1.53
Failure of amniotic-fluid cell growth with toxic tubes. N Engl J Med (1979) 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
The Sanfilippo A corrective factor. Purification and mode of action. J Biol Chem (1972) 1.41
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
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
A prospective study of the risk of congenital defects associated with maternal obesity and diabetes mellitus. Epidemiology (2000) 1.29
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics (1992) 1.28
Cerebral gigantism in childhood. A report of two cases and a review of the literature. Pediatrics (1967) 1.25
Limited proteolysis of the beta-hexosaminidase precursor in a cell-free system. J Biol Chem (1981) 1.23
Editorial: Risk of amniocentesis for prenatal diagnosis. N Engl J Med (1975) 1.22
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
Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy. J Pediatr (1976) 1.19
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
Prenatal diagnosis of neural tube defects. I. Problems and pitfalls: analysis of 2495 cases using the alpha-fetoprotein assay. Obstet Gynecol (1976) 1.16
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am J Med Genet (1995) 1.16
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
A new mutation causing familial amyloidotic polyneuropathy. Biochem Biophys Res Commun (1989) 1.11
Morphologic and biochemical studies of canine mucopolysaccharidosis I. Am J Pathol (1984) 1.11
Prenatal diagnosis of genetic disorders. An analysis of experience with 600 cases. JAMA (1974) 1.10
Iduronate sulfatase in amniotic fluid: an aid in the prenatal diagnosis of the hunter syndrome. J Pediatr (1977) 1.10
Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Genet (1993) 1.09
The value of alpha-fetoprotein in the prenatal diagnosis of neural tube defects. J Pediatr (1974) 1.08
NAGLU mutations underlying Sanfilippo syndrome type B. Am J Hum Genet (1998) 1.08
Trisomy 12 mosaicism in phenotypically normal fetuses following prenatal detection. Prenat Diagn (1990) 1.07
X-linked Hunter syndrome: the heterozygous phenotype in cell culture. Am J Hum Genet (1977) 1.07
Purification and characterization of recombinant human alpha-N-acetylglucosaminidase secreted by Chinese hamster ovary cells. Protein Expr Purif (2000) 1.06
High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochem Biophys Res Commun (1978) 1.05
Diabetes mellitus in Down's Syndrome. Arch Environ Health (1968) 1.04
Prenatal diagnosis of Friedreich ataxia. Am J Med Genet (1989) 1.03
Intrauterine diagnosis of the hurler and hunter syndromes. N Engl J Med (1969) 1.03
Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24). J Med Genet (1996) 1.02