Published in Proc Natl Acad Sci U S A on July 01, 1986
Fabry disease. Orphanet J Rare Dis (2010) 3.48
alpha-Galactosidase A deficient mice: a model of Fabry disease. Proc Natl Acad Sci U S A (1997) 2.43
A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet (2001) 2.13
Cloning, sequencing, and expression of cDNA for human beta-glucuronidase. Proc Natl Acad Sci U S A (1987) 1.92
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet (1993) 1.83
Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region. Proc Natl Acad Sci U S A (1988) 1.79
Nucleotide sequences and operon structure of plasmid-borne genes mediating uptake and utilization of raffinose in Escherichia coli. J Bacteriol (1989) 1.70
Human lysosomal acid phosphatase: cloning, expression and chromosomal assignment. EMBO J (1988) 1.57
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet (1990) 1.57
Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet (2000) 1.48
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest (1989) 1.44
Molecular cloning and characterization of esterase-6, a serine hydrolase of Drosophila. Proc Natl Acad Sci U S A (1987) 1.40
Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice. Proc Natl Acad Sci U S A (2001) 1.40
Nucleotide sequence of the human alpha-galactosidase A gene. Nucleic Acids Res (1989) 1.37
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med (1997) 1.36
Anderson-Fabry disease. BMJ (1988) 1.26
Nucleotide sequence of the melA gene, coding for alpha-galactosidase in Escherichia coli K-12. Nucleic Acids Res (1987) 1.18
Mouse thymidylate synthase messenger RNA lacks a 3' untranslated region. Proc Natl Acad Sci U S A (1986) 1.10
Functional studies of new GLA gene mutations leading to conformational Fabry disease. Biochim Biophys Acta (2009) 1.05
Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility. Biochem J (1998) 1.02
Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA. Am J Hum Genet (2002) 1.02
Oocyte-specific expression of mouse Zp-2: developmental regulation of the zona pellucida genes. Mol Cell Biol (1990) 1.00
Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. J Med Genet (1996) 1.00
Pharmacological chaperone therapy for Fabry disease. Proc Jpn Acad Ser B Phys Biol Sci (2012) 1.00
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Mol Med (1999) 0.99
Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion. Nucleic Acids Res (1995) 0.97
Sequence variations in the first exon of alpha-galactosidase A. J Med Genet (1993) 0.96
Isolation and sequence analysis of a cDNA encoding rat liver alpha-L-fucosidase. Biochem J (1989) 0.92
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. J Inherit Metab Dis (2005) 0.87
MEL gene polymorphism in the genus Saccharomyces. Appl Environ Microbiol (1993) 0.86
Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. Eur J Pediatr (2004) 0.85
Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation. Am J Hum Genet (2003) 0.85
Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone. J Med Genet (1991) 0.83
Purification and characterization of the recombinant Thermus sp. strain T2 alpha-galactosidase expressed in Escherichia coli. Appl Environ Microbiol (2001) 0.82
Cloning and high-level expression of alpha-galactosidase cDNA from Penicillium purpurogenum. Appl Environ Microbiol (1998) 0.81
Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele. J Inherit Metab Dis (1997) 0.81
Enzyme replacement and beyond. J Inherit Metab Dis (2001) 0.80
Gene therapy for Fabry disease. J Inherit Metab Dis (2001) 0.78
Anderson-Fabry disease: an unusual presentation with lymphadenopathy. J R Soc Med (1989) 0.75
DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A (1977) 790.54
Sequencing end-labeled DNA with base-specific chemical cleavages. Methods Enzymol (1980) 287.68
A simple method for displaying the hydropathic character of a protein. J Mol Biol (1982) 150.65
New M13 vectors for cloning. Methods Enzymol (1983) 90.74
Sequence and organization of the human mitochondrial genome. Nature (1981) 57.39
Empirical predictions of protein conformation. Annu Rev Biochem (1978) 25.48
Transcription termination and 3' processing: the end is in site! Cell (1985) 17.46
A rapid single-stranded cloning strategy for producing a sequential series of overlapping clones for use in DNA sequencing: application to sequencing the corn mitochondrial 18 S rDNA. Plasmid (1985) 15.79
Role of the conserved AAUAAA sequence: four AAUAAA point mutants prevent messenger RNA 3' end formation. Science (1984) 7.35
Are U4 small nuclear ribonucleoproteins involved in polyadenylation? Nature (1984) 5.29
The structure and function of eukaryotic ribosomes. Annu Rev Biochem (1979) 4.81
The phosphomannosyl recognition system for intracellular and intercellular transport of lysosomal enzymes. J Cell Biochem (1982) 4.50
Expression of active human factor VIII from recombinant DNA clones. Nature (1984) 4.36
Isolation of cDNA clones coding for the beta subunit of human beta-hexosaminidase. Proc Natl Acad Sci U S A (1985) 3.50
Cloning and sequence analysis of cDNA for human cathepsin D. Proc Natl Acad Sci U S A (1985) 3.10
cDNA clones for the heavy chain of HLA-DR antigens obtained after immunopurification of polysomes by monoclonal antibody. Proc Natl Acad Sci U S A (1982) 2.88
Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA. Proc Natl Acad Sci U S A (1985) 2.82
Molecular cloning of a cDNA for human alpha-L-fucosidase. Proc Natl Acad Sci U S A (1985) 2.14
Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain. Proc Natl Acad Sci U S A (1985) 2.03
Clusters of CpG dinucleotides implicated by nuclease hypersensitivity as control elements of housekeeping genes. Nature (1985) 1.96
An immunochemical method for mRNA purification. Application to messenger RNA encoding trypanosome variable surface antigen. J Biol Chem (1981) 1.91
Transcription and accurate polyadenylation in vitro of RNA from the major late adenovirus 2 transcription unit. Cell (1982) 1.86
Carbohydrate-peptide linkage in glycoproteins. Arch Biochem Biophys (1976) 1.59
Identification of cDNA clones encoding a precursor of rat liver cathepsin B. Proc Natl Acad Sci U S A (1985) 1.55
Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms. J Biol Chem (1981) 1.42
Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A. Proc Natl Acad Sci U S A (1985) 1.11
Frequency of reactivation and variability in expression of X-linked enzyme loci. Am J Hum Genet (1984) 1.09
Regional localization of alpha-galactosidase (GLA) to Xpter----q22, hexosaminidase B (HEXB) to 5q13----qter, and arylsulfatase B (ARSB) to 5pter----q13. Cytogenet Cell Genet (1984) 1.08
The metabolism of ceramide trihexosides. I. Purification and properties of an enzyme that cleaves the terminal galactose molecule of galactosylgalactosylglucosylceramide. J Biol Chem (1967) 1.06
Isolation and expression in Escherichia coli of a cDNA clone encoding human beta-glucuronidase. Gene (1985) 1.02
Studies on human liver alpha-galactosidases. I. Purification of alpha-galactosidase A and its enzymatic properties with glycolipid and oligosaccharide substrates. J Biol Chem (1979) 0.96
Biosynthesis of alpha-galactosidase A in cultured Chang liver cells. Arch Biochem Biophys (1983) 0.87
Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease. N Engl J Med (2001) 6.94
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science (1996) 4.22
Glycosylated hemoglobin and the risk of microalbuminuria in patients with insulin-dependent diabetes mellitus. N Engl J Med (1995) 3.76
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med (2001) 3.72
Molecular basis of valine resistance in Escherichia coli K-12. Proc Natl Acad Sci U S A (1981) 3.55
The precautionary principle in environmental science. Environ Health Perspect (2001) 3.47
Precancerous changes in the cervix and risk of subsequent preterm birth. BJOG (2006) 3.25
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet (2001) 2.81
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nat Genet (1995) 2.66
Modern methods of searching the medical literature. Med J Aust (1992) 2.58
Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter. Proc Natl Acad Sci U S A (1981) 2.50
Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med (1973) 2.35
2004 consensus statements on the management of ovarian cancer: final document of the 3rd International Gynecologic Cancer Intergroup Ovarian Cancer Consensus Conference (GCIG OCCC 2004). Ann Oncol (2005) 2.33
Outcomes of screening to prevent cancer: analysis of cumulative incidence of cervical abnormality and modelling of cases and deaths prevented. BMJ (2003) 2.30
Role of cryptic genes in microbial evolution. Mol Biol Evol (1983) 2.29
An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med (1991) 2.27
Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone. Proc Natl Acad Sci U S A (1986) 2.25
Analysis of xylem formation in pine by cDNA sequencing. Proc Natl Acad Sci U S A (1998) 2.21
The incidence of breast cancer in the General Practice Research Database compared with national cancer registration data. Br J Cancer (2000) 2.17
European Code Against Cancer and scientific justification: third version (2003). Ann Oncol (2003) 2.17
The PATHWAYS church-based weight loss program for urban African-American women at risk for diabetes. Diabetes Care (1997) 2.16
A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet (2001) 2.13
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet (2000) 2.08
Quality assurance in molecular genetic testing laboratories. JAMA (1999) 2.00
Purification and properties of delta-aminolevulinate dehydrase from human erythrocytes. J Biol Chem (1979) 1.89
Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J Biol Chem (1991) 1.89
Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates. J Biol Chem (1980) 1.87
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet (1993) 1.83
Socioeconomic inequalities in cancer survival in England and Wales. Cancer (2001) 1.83
The regulation of tryptophan biosynthesis in Pseudomonas aeruginosa. Mol Gen Genet (1973) 1.80
The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med (1989) 1.79
Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region. Proc Natl Acad Sci U S A (1988) 1.79
Risk of mortality, cancer incidence, and stroke in a population potentially exposed to cadmium. Occup Environ Med (2000) 1.77
Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med (2001) 1.73
Different forms of simian virus 40 large tumor antigen varying in their affinities for DNA. J Virol (1982) 1.72
Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. Blood (2000) 1.71
Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII. Pediatr Res (1984) 1.67
The complete nucleotide sequence of the ilvGMEDA cluster of Escherichia coli K-12. Gene (1987) 1.65
Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet (1999) 1.62
The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes. Environ Res (1991) 1.62
Prader-Willi syndrome and a bisatellited derivative of chromosome 15. Clin Genet (1980) 1.60
Isolation of a cDNA clone for the human lysosomal proteinase cathepsin B. Proc Natl Acad Sci U S A (1986) 1.59
Trends in the incidence of primary liver and biliary tract cancers in England and Wales 1971-2001. Br J Cancer (2006) 1.58
Cancer prevalence in the UK: results from the EUROPREVAL study. Ann Oncol (2003) 1.57
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet (1990) 1.57
Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts. EMBO J (1989) 1.55
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood (2000) 1.54
Remission induction comparing infliximab and high-dose intravenous steroid, followed by treat-to-target: a double-blind, randomised, controlled trial in new-onset, treatment-naive, rheumatoid arthritis (the IDEA study). Ann Rheum Dis (2013) 1.53
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. Hum Mol Genet (1994) 1.52
A randomised controlled trial of etanercept and methotrexate to induce remission in early inflammatory arthritis: the EMPIRE trial. Ann Rheum Dis (2014) 1.52
Threonine deaminase from Escherichia coli. I. Purification and properties. J Biol Chem (1973) 1.51
Lead binding to delta-aminolevulinic acid dehydratase (ALAD) in human erythrocytes. Pharmacol Toxicol (1997) 1.50
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis (2009) 1.50
The inferior hypogastric plexus: a different view. J Obstet Gynaecol (2007) 1.49
Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion. J Cell Biol (1992) 1.49
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. J Biol Chem (1996) 1.49
Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet (2000) 1.48
The role of oral contraceptive agents in cerebral arterial occlusion. Neurology (1969) 1.47
Deletion mapping of the ilvGOEDAC genes of Escherichia coli K-12. Mol Gen Genet (1979) 1.47
Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease). Am J Hum Genet (1975) 1.46
Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc Natl Acad Sci U S A (1992) 1.46
Validation and reproducibility of ultrasonography in the detection of synovitis in the knee: a comparison with arthroscopy and clinical examination. Arthritis Rheum (2004) 1.45
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest (1989) 1.44
A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. N Engl J Med (1992) 1.43
Prenatal genetic carrier testing using triple disease screening. JAMA (1997) 1.43
Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4. Genomics (1991) 1.43
Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms. J Biol Chem (1981) 1.42
Enzyme replacement in Fabry's disease, an inborn error of metabolism. Science (1970) 1.41
Phase I study of the heat shock protein 90 inhibitor alvespimycin (KOS-1022, 17-DMAG) administered intravenously twice weekly to patients with acute myeloid leukemia. Leukemia (2010) 1.41
The branch point metabolite for pyocyanine biosynthesis in Pseudomonas aeruginosa. J Gen Microbiol (1972) 1.40
Cardiac carcinoid: tricuspid delayed hyperenhancement on cardiac 64-slice multidetector CT and magnetic resonance imaging. Ir J Med Sci (2009) 1.40
Increasing tamoxifen dose in breast cancer patients based on CYP2D6 genotypes and endoxifen levels: effect on active metabolite isomers and the antiestrogenic activity score. Clin Pharmacol Ther (2011) 1.39
Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting. Am J Hum Genet (1987) 1.38
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology (2006) 1.37
Nucleotide sequence of the human alpha-galactosidase A gene. Nucleic Acids Res (1989) 1.37
Assessing health impact assessment: multidisciplinary and international perspectives. J Epidemiol Community Health (2003) 1.37
Autoregulation of gene expression. Annu Rev Microbiol (1975) 1.36
Small cell of the ovary, hypercalcemic type -- analysis of combined experience and recommendation for management. A GCIG study. Gynecol Oncol (2006) 1.36
Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I. Pediatr Res (1979) 1.36
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med (1997) 1.36
Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease. Genomics (1992) 1.35
Effect of the delta-aminolevulinate dehydratase polymorphism on the accumulation of lead in bone and blood in lead smelter workers. Environ Res (1998) 1.35
Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn (1992) 1.35
Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning. Am J Hum Genet (1991) 1.35
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet (2003) 1.34
Identification of the protein products of the rrnC, ilv, rho region of the Escherichia coli K-12 chromosome. Mol Gen Genet (1981) 1.34
Human delta-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization. Hum Genet (1987) 1.32
Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. J Clin Invest (1991) 1.32
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. J Clin Invest (2001) 1.31