Published in Nat Genet on June 01, 1995
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. Orphanet J Rare Dis (2014) 1.47
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011. Orphanet J Rare Dis (2011) 1.40
Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24. Am J Hum Genet (1997) 1.34
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. J Clin Invest (2001) 1.31
Expression of human cathepsin K in Pichia pastoris and preliminary crystallographic studies of an inhibitor complex. Protein Sci (1997) 1.12
Molecular dynamics simulations of the catalytic pathway of a cysteine protease: a combined QM/MM study of human cathepsin K. J Am Chem Soc (2007) 1.04
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. Am J Hum Genet (1998) 1.01
Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. Am J Hum Genet (2010) 0.99
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet (1999) 0.98
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. Am J Hum Genet (1998) 0.85
Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery. Osteoporos Int (2013) 0.81
Novel human and mouse genes encoding an acid phosphatase family member and its downregulation in W/W(V) mouse jejunum. Gut (2002) 0.80
A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis. BMJ Case Rep (2012) 0.79
Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22. Am J Hum Genet (1999) 0.76
From disease to treatment: from rare skeletal disorders to treatments for osteoporosis. Endocrine (2016) 0.76
A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes. Medicine (Baltimore) (2017) 0.75
A patient with pycnodysostosis presenting with seizures and porencephalic cysts. J Neurosci Rural Pract (2014) 0.75
Management of chronic suppurative osteomyelitis in a patient with pycnodysostosis by intra-lesional antibiotic therapy. J Nat Sci Biol Med (2015) 0.75
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region. Eur J Med Res (2016) 0.75
Total Hip Arthroplasty after Treatment of an Atypical Subtrochanteric Femoral Fracture in a Patient with Pycnodysostosis. Case Rep Orthop (2015) 0.75
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet (2001) 6.96
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
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med (2001) 3.72
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
Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci U S A (1986) 2.51
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
Scenarios: a planning tool for health care organizations. Hosp Health Serv Adm (1991) 2.41
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
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
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
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
Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med (2001) 1.73
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet (1999) 1.72
Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII. Pediatr Res (1984) 1.67
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet (2000) 1.62
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
Noonan syndrome: clinical aspects and molecular pathogenesis. Mol Syndromol (2010) 1.60
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
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
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
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
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
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
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
Cloning and characterization of a novel mouse AP-2 transcription factor, AP-2delta, with unique DNA binding and transactivation properties. J Biol Chem (2001) 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
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
Mannosidosis: clinical, morphologic, immunologic, and biochemical studies. Pediatr Res (1976) 1.31
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat (1994) 1.29
Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification. Hum Mutat (1993) 1.29
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. J Biol Chem (1990) 1.28
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med (2000) 1.27
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. Proc Natl Acad Sci U S A (1991) 1.25
The ocular manifestations in Fabry's disease. Arch Ophthalmol (1979) 1.25
Purification, characterization, and biosynthesis of human acid ceramidase. J Biol Chem (1995) 1.23
Toward enzyme therapy for lysosomal storage diseases. Physiol Rev (1976) 1.23
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. J Clin Invest (1999) 1.23
delta-Aminolevulinic acid dehydratase isozymes and lead toxicity. Ann N Y Acad Sci (1987) 1.22
Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect. J Clin Invest (1981) 1.22
Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. Proc Natl Acad Sci U S A (1979) 1.21
Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients. Am J Med Genet (1985) 1.21
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. Eur J Hum Genet (2000) 1.21
Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. Am J Hum Genet (2001) 1.20
Delta-aminolevulinic acid dehydratase polymorphism: influence on lead levels and kidney function in humans. Arch Environ Health (1997) 1.20
Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site. Proc Natl Acad Sci U S A (1986) 1.20
The pathology of the feline model of mucopolysaccharidosis I. Am J Pathol (1983) 1.20
Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab (1998) 1.19
Genetics of peanut allergy: a twin study. J Allergy Clin Immunol (2000) 1.19
Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease. J Biol Chem (1987) 1.19
Assignment of the gene for acid beta-glucosidase to human chromosome 1. Am J Hum Genet (1981) 1.19
Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C. Genomics (1990) 1.19
Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases. Neurology (1981) 1.18
Mannosidosis: pathology of the nervous system. J Neuropathol Exp Neurol (1977) 1.17
Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics (1992) 1.17
Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency. N Engl J Med (1989) 1.17
Light- and electron-microscopic histochemistry of Fabry's disease. Am J Pathol (1981) 1.17
Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome. Ann Neurol (1980) 1.16
Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit. Anal Biochem (1999) 1.16
Purification and properties of uroporphyrinogen III synthase from human erythrocytes. J Biol Chem (1987) 1.15
Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr Res (1979) 1.15
Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer. Proc Natl Acad Sci U S A (1990) 1.14
Suppression of apolipoprotein B production during treatment of cholesteryl ester storage disease with lovastatin. Implications for regulation of apolipoprotein B synthesis. J Clin Invest (1987) 1.14
Correction of enzymatic deficiencies by renal transplantation: Fabry's disease. Surgery (1972) 1.13
Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. J Med Genet (2005) 1.13