PubRank

R J Desnick

Author PubWeight™ 330.29‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease. N Engl J Med 2001 6.94
2 Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 1996 4.22
3 Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001 3.72
4 Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome. Nat Genet 2001 2.81
5 Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nat Genet 1995 2.66
6 Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci U S A 1986 2.51
7 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
8 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
9 An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 1991 2.27
10 Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone. Proc Natl Acad Sci U S A 1986 2.25
11 Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med 2001 2.24
12 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
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
14 Quality assurance in molecular genetic testing laboratories. JAMA 1999 2.00
15 Purification and properties of delta-aminolevulinate dehydrase from human erythrocytes. J Biol Chem 1979 1.89
16 Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J Biol Chem 1991 1.89
17 Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates. J Biol Chem 1980 1.87
18 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet 1993 1.83
19 The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med 1989 1.79
20 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
21 Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med 2001 1.73
22 Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII. Pediatr Res 1984 1.67
23 Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet 1999 1.62
24 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
25 Prader-Willi syndrome and a bisatellited derivative of chromosome 15. Clin Genet 1980 1.60
26 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
27 Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts. EMBO J 1989 1.55
28 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
29 Lead binding to delta-aminolevulinic acid dehydratase (ALAD) in human erythrocytes. Pharmacol Toxicol 1997 1.50
30 The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis 2009 1.50
31 Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion. J Cell Biol 1992 1.49
32 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
33 Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 2000 1.48
34 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
35 Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest 1989 1.44
36 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
37 Prenatal genetic carrier testing using triple disease screening. JAMA 1997 1.43
38 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
39 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
40 Enzyme replacement in Fabry's disease, an inborn error of metabolism. Science 1970 1.41
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
42 Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting. Am J Hum Genet 1987 1.38
43 Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology 2006 1.37
44 Nucleotide sequence of the human alpha-galactosidase A gene. Nucleic Acids Res 1989 1.37
45 Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I. Pediatr Res 1979 1.36
46 Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 1997 1.36
47 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
48 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
49 Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn 1992 1.35
50 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
51 Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet 2003 1.34
52 Human delta-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization. Hum Genet 1987 1.32
53 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
54 Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. J Clin Invest 2001 1.31
55 Mannosidosis: clinical, morphologic, immunologic, and biochemical studies. Pediatr Res 1976 1.31
56 Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nat Genet 1995 1.30
57 Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat 1994 1.29
58 Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification. Hum Mutat 1993 1.29
59 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
60 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
61 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
62 The ocular manifestations in Fabry's disease. Arch Ophthalmol 1979 1.25
63 Purification, characterization, and biosynthesis of human acid ceramidase. J Biol Chem 1995 1.23
64 Toward enzyme therapy for lysosomal storage diseases. Physiol Rev 1976 1.23
65 Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. J Clin Invest 1999 1.23
66 Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect. J Clin Invest 1981 1.22
67 delta-Aminolevulinic acid dehydratase isozymes and lead toxicity. Ann N Y Acad Sci 1987 1.22
68 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
69 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
70 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
71 Delta-aminolevulinic acid dehydratase polymorphism: influence on lead levels and kidney function in humans. Arch Environ Health 1997 1.20
72 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
73 The pathology of the feline model of mucopolysaccharidosis I. Am J Pathol 1983 1.20
74 Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab 1998 1.19
75 Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease. J Biol Chem 1987 1.19
76 Assignment of the gene for acid beta-glucosidase to human chromosome 1. Am J Hum Genet 1981 1.19
77 Genetics of peanut allergy: a twin study. J Allergy Clin Immunol 2000 1.19
78 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
79 Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases. Neurology 1981 1.18
80 Mannosidosis: pathology of the nervous system. J Neuropathol Exp Neurol 1977 1.17
81 Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics 1992 1.17
82 Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency. N Engl J Med 1989 1.17
83 Light- and electron-microscopic histochemistry of Fabry's disease. Am J Pathol 1981 1.17
84 Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome. Ann Neurol 1980 1.16
85 Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit. Anal Biochem 1999 1.16
86 Purification and properties of uroporphyrinogen III synthase from human erythrocytes. J Biol Chem 1987 1.15
87 Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr Res 1979 1.15
88 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
89 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
90 Correction of enzymatic deficiencies by renal transplantation: Fabry's disease. Surgery 1972 1.13
91 Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A. Proc Natl Acad Sci U S A 1985 1.11
92 Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate. J Clin Invest 1985 1.11
93 Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Proc Natl Acad Sci U S A 1988 1.09
94 Workshop on inborn errors of metabolism. Prog Clin Biol Res 1982 1.09
95 Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. Am J Hum Genet 2000 1.09
96 Frequency of reactivation and variability in expression of X-linked enzyme loci. Am J Hum Genet 1984 1.09
97 Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities. J Clin Invest 1988 1.08
98 Combined transgenic expression of alpha-galactosidase and alpha1,2-fucosyltransferase leads to optimal reduction in the major xenoepitope Galalpha(1,3)Gal. Proc Natl Acad Sci U S A 1997 1.08
99 Reduced plasma concentrations of total, low density lipoprotein and high density lipoprotein cholesterol in patients with Gaucher type I disease. Clin Genet 1984 1.07
100 Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease. Am Heart J 1977 1.07
101 Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. FASEB J 2000 1.07
102 Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies. Circulation 1976 1.07
103 Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes. J Biol Chem 1986 1.07
104 Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. Blood 1992 1.07
105 Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. Genomics 2000 1.06
106 Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. J Biol Chem 1992 1.05
107 Mucopolysaccharidosis in a domestic short-haired cat--a disease distinct from that seen in the Siamese cat. J Am Vet Med Assoc 1979 1.05
108 Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer. Hum Gene Ther 1999 1.05
109 Purification and properties of human hepatic aspartylglucosaminidase. J Biol Chem 1983 1.03
110 A method for the quantitative determination of neutral glycosphingolipids in urine sediment. J Lipid Res 1970 1.03
111 Gaucher type I (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate. Clin Chim Acta 1982 1.02
112 Structure and chromosomal assignment of the human cathepsin K gene. Genomics 1997 1.02
113 Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility. Biochem J 1998 1.02
114 Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. Mol Genet Metab 2006 1.02
115 Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants. Clin Genet 1985 1.02
116 Relief of pain of Fabry's disease by diphenylhydantoin. Neurology 1973 1.02
117 Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation. J Bone Miner Res 1999 1.02
118 Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation. Genomics 1995 1.01
119 Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. J Clin Invest 1995 1.01
120 Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. Am J Hum Genet 1998 1.01
121 Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme. J Clin Invest 1994 1.01
122 Assignment of human alpha 1-antitrypsin to chromosome 14 by somatic cell hybrid analysis. Proc Natl Acad Sci U S A 1982 1.01
123 Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. Eur J Hum Genet 1996 1.00
124 Interstitial deletion of the long arm of chromosome 6 [del(6) (q16q22)]: case report and review of the literature. Clin Genet 1984 1.00
125 Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. Am J Hum Genet 1992 1.00
126 Synthesis of a fluorescent derivative of glucosyl ceramide for the sensitive determination of glucocerebrosidase activity. Anal Biochem 1984 0.99
127 Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. J Clin Invest 1999 0.99
128 Enzyme therapy. VI: Comparative in vivo fates and effects on lysosomal integrity of enzyme entrapped in negatively and positively charged liposomes. Biochim Biophys Acta 1977 0.99
129 Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Mol Med 1999 0.99
130 Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Mol Genet Metab 1999 0.99
131 Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients. Hum Mutat 1993 0.99
132 Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family. Am J Med Genet 2000 0.98
133 Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3. Hum Genet 1991 0.98
134 Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria". Clin Chim Acta 1979 0.98
135 Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A. Genomics 1992 0.98
136 The acro-osteolysis syndrome: Morphologic and biochemical studies. J Pediatr 1976 0.98
137 Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. J Clin Invest 1992 0.98
138 Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. Am J Med Genet 1995 0.98
139 Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. J Hum Genet 2001 0.98
140 I-cell disease (mucolipidosis II):a report on its pathology. Acta Neuropathol 1975 0.97
141 Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes. Pharmacogenomics J 2012 0.97
142 Porphobilinogen deaminase: methods and principles of the enzymatic assay. Enzyme 1982 0.97
143 Animal model of human disease: Mucopolysaccharidosis VI Maroteaux-Lamy syndrome, Arylsulfatase B-deficient mucopolysaccharidosis in the Siamese cat. Am J Pathol 1981 0.96
144 Human alpha-L-iduronidase. I. Purification and properties of the high uptake (higher molecular weight) and the low uptake (processed) forms. J Biol Chem 1984 0.96
145 Enzyme therapy IV. A method for determining the in vivo fate of bovine beta-glucuronidase in beta-glucuronidase deficient mice. Biochem Biophys Res Commun 1974 0.96
146 Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population. J Thromb Haemost 2010 0.96
147 Pulmonary involvement in Fabry disease. Am J Respir Crit Care Med 1997 0.95
148 Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene. J Biol Chem 2000 0.95
149 Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain. Sandhoff's disease (variant of Tay-Sachs disease). Am J Med 1972 0.95
150 Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites. Biochim Biophys Acta 1987 0.95
151 Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene. J Biol Chem 1990 0.94
152 Echocardiographic abnormalities and disease severity in Fabry's disease. J Am Coll Cardiol 1986 0.94
153 Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria. Anal Biochem 1987 0.94
154 Purification and properties of feline and human arylsulfatase B isozymes. Evidence for feline homodimeric and human monomeric structures. J Biol Chem 1982 0.94
155 Characterization of the defective beta-glucuronidase activity in canine mucopolysaccharidosis type VII. Enzyme 1989 0.94
156 Argininosuccinic aciduria: prenatal studies in a family at risk. Am J Hum Genet 1979 0.94
157 Human delta-aminolevulinate dehydratase (ALAD) gene: structure and alternative splicing of the erythroid and housekeeping mRNAs. Genomics 1994 0.94
158 Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT. Birth Defects Orig Artic Ser 1986 0.93
159 Kümmell disease: delayed collapse of the traumatised spine in a patient with Gaucher type 1 disease. Br J Radiol 1984 0.93
160 A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. J Med Genet 2005 0.93
161 Human alpha-galactosidase A: characterization of the N-linked oligosaccharides on the intracellular and secreted glycoforms overexpressed by Chinese hamster ovary cells. Glycobiology 1998 0.93
162 Molecular cloning of a cDNA for human delta-aminolevulinate dehydratase. Gene 1986 0.93
163 Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene. Genomics 1993 0.93
164 Enzyme therapy. V. In vivo fate of erythrocyte-entrapped beta-glucuronidase in beta-glucuronidase-deficient mice. Pediatr Res 1975 0.92
165 Structural organization and complete sequence of the human alpha-N-acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral gene. Genomics 1991 0.92
166 Human lysosomal beta-glucosidase: kinetic characterization of the catalytic, aglycon, and hydrophobic binding sites. Arch Biochem Biophys 1984 0.92
167 Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease. Hum Mutat 1992 0.91
168 Fabry disease: an unusual cause of severe coronary disease in a young man. Ann Intern Med 1992 0.91
169 Enzyme therapy XVII: metabolic and immunologic evaluation of alpha- galactosidase A replacement in Fabry disease. Birth Defects Orig Artic Ser 1980 0.90
170 Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families. J Inherit Metab Dis 2005 0.90
171 Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease. Hum Mol Genet 1993 0.90
172 A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases. Clin Chim Acta 1990 0.89
173 Diagnosis of glycosphingolipidoses by urinary-sediment analysis. N Engl J Med 1971 0.89
174 Gaucher's disease type 1: assessment of bone involvement by CT and scintigraphy. AJR Am J Roentgenol 1986 0.89
175 Enzyme therapy. Differential in vivo retention of bovine hepatic, renal, and splenic beta-glucuronidases and evidence for enzyme stabilization by intermolecular exchange. Arch Biochem Biophys 1977 0.89
176 Central retinal artery occlusion complicating Fabry's disease. Arch Ophthalmol 1978 0.89
177 Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients. J Clin Invest 1997 0.88
178 Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant. J Inherit Metab Dis 2003 0.88
179 Mutational mosaicism and genetic counseling in retinoblastoma. Am J Med Genet 1979 0.88
180 Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation. J Am Acad Dermatol 2001 0.88
181 Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease. Birth Defects Orig Artic Ser 1973 0.87
182 Cardiac involvement in Sandhoff's disease. Inborn error of glycosphingolipid metabolism. Am J Cardiol 1974 0.87
183 Assays of the heme biosynthetic enzymes. Preface. Enzyme 1982 0.87
184 Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. Blood 1998 0.87
185 Assay of enzymes of lipid metabolism with colored and fluorescent derivatives of natural lipids. Methods Enzymol 1981 0.87
186 Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter). Am J Hum Genet 1984 0.87
187 Fabry disease: diagnosis by alpha-galactosidase activities in tears. Clin Chim Acta 1975 0.86
188 Successful pregnancy in severe methylmalonic acidaemia. J Inherit Metab Dis 1999 0.86
189 Bone density in Type 1 Gaucher disease. J Bone Miner Res 1996 0.86
190 An improved method for heterozygote identification in feline and human mucopolysaccharidosis VI, arylsulfatase-B deficiency. Enzyme 1981 0.86
191 Fluorescence-based selection of retrovirally transduced cells in the absence of a marker gene: direct selection of transduced type B Niemann-Pick disease cells and evidence for bystander correction. Hum Gene Ther 1995 0.85
192 Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease. Clin Genet 2003 0.85
193 The M-mode echocardiogram in Fabry's disease. Am Heart J 1980 0.85
194 delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. Am J Hum Genet 1991 0.85
195 Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. Am J Hum Genet 1998 0.85
196 Regional assignment of the structural gene for human acid beta-glucosidase to q42 leads to qter on chromosome 1. Cytogenet Cell Genet 1982 0.85
197 Accelerated skeletal deterioration after splenectomy in Gaucher type 1 disease. AJR Am J Roentgenol 1982 0.85
198 Electrophoretic separation of neutral and acid beta-glucosidase isozymes in human tissues. Biochim Biophys Acta 1980 0.85
199 Enzyme transplantation in Fabry's disease. N Engl J Med 1972 0.85
200 A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14. Nucleic Acids Res 1991 0.85
201 An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1). Nucleic Acids Res 1991 0.85
202 Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation. Am J Med Genet 1999 0.85
203 The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. Am J Hum Genet 2000 0.84
204 Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness. Pharmacogenomics J 2011 0.84
205 Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity. Arch Dermatol 1992 0.84
206 Human alpha-L-iduronidase. II. Comparative biochemical and immunologic properties of the purified low and high uptake forms. Enzyme 1984 0.84
207 Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association. J Clin Invest 1982 0.84
208 Recent advances in Fabry's disease. Trans Assoc Am Physicians 1970 0.83
209 Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3. Genes Immun 2013 0.83
210 Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells. Proc Natl Acad Sci U S A 1992 0.83
211 Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19. Am J Med Genet 1997 0.83
212 Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog. Am J Pathol 1991 0.83
213 Animal analogues of human inherited metabolic diseases: molecular pathology and therapeutic studies. Prog Clin Biol Res 1982 0.83
214 Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. Mol Genet Metab 2001 0.83
215 Hexosaminidase A activity and amyotrophic lateral sclerosis. Muscle Nerve 1988 0.83
216 Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1. Am J Med Genet 1997 0.83
217 The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease. Trans Assoc Am Physicians 1989 0.83
218 Crystallization and preliminary X-ray analysis of human alpha-galactosidase A complex. J Mol Biol 1994 0.82
219 A new continuous, monodimensional electrophoretic system for the separation and quantitation of individual glycosaminoglycans. Anal Biochem 1981 0.82
220 Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases. Adv Genet 2001 0.82
221 Gaucher disease: a century of delineation and understanding. Prog Clin Biol Res 1982 0.82
222 Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis gene. Biochem Mol Med 1996 0.82
223 Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation. Pharmacogenomics J 2012 0.82
224 Tay-Sachs disease: from clinical description to molecular defect. Adv Genet 2001 0.82
225 Comparative physical, kinetic and immunologic properties of the acidic and neutral alpha-D-mannosidase isozymes from human liver. Enzyme 1980 0.82
226 Regional assignment of the structural gene for human alpha-L-iduronidase. Proc Natl Acad Sci U S A 1984 0.82
227 Assignment of the gene for neutral alpha-glucosidase AB to chromosome 11. Cytogenet Cell Genet 1983 0.81
228 Glutamate dehydrogenase deficiency in three patients with spinocerebellar ataxia: a new enzymatic defect? Trans Am Neurol Assoc 1979 0.81
229 The entire genomic sequence and cDNA expression of mouse alpha-galactosidase A. Biochem Mol Med 1996 0.81
230 Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1. Genomics 1992 0.81
231 Malignant fibrous histiocytoma: inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22-evidence for a common genetic defect. Genes Chromosomes Cancer 2000 0.81
232 Diversity of cystic fibrosis mutation-screening practices. Am J Hum Genet 1998 0.81
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239 Animal models of mucopolysaccharidosis. Prog Clin Biol Res 1982 0.81
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255 Lysosomal accumulation of phospholipids in mucolipidosis IV cultured fibroblasts. Enzyme 1988 0.79
256 Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells. Mol Genet Metab 1998 0.79
257 Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. Mol Genet Metab 1999 0.79
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278 The liver in inherited metabolic diseases of childhood. Prog Liver Dis 1972 0.78
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284 Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease. Arch Neurol 2000 0.77
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290 Biochemical properties of the tartrate-resistant acid phosphatase activity in Gaucher disease. Prog Clin Biol Res 1982 0.77
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292 Fluorometric coupled-enzyme assay for delta-aminolevulinate synthase. Enzyme 1982 0.77
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294 Feline models of mucopolysaccharidosis. Birth Defects Orig Artic Ser 1980 0.77
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303 Microautoradiographic study on the tissue localization of liposome-entrapped or unentrapped 3H-labeled beta-galactosidase injected into rats. Tohoku J Exp Med 1983 0.76
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308 Assignment of the gene for cytosolic alanine aminotransferase (AAT1) to human chromosome 8. Ann Hum Genet 1982 0.75
309 Acute myelogenous leukaemia in Hurler's syndrome. J Med Genet 1978 0.75
310 Enzyme therapy--IX. Stabilization of human splenic alpha-galactosidase a by zinc ion. Int J Biochem 1978 0.75
311 Gaucher disease: a membranous enzymopathy. Prog Clin Biol Res 1982 0.75
312 Gaucher type I (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis. Prog Clin Biol Res 1982 0.75
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321 Hexosaminidase A activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate. J Inherit Metab Dis 1985 0.75
322 A fully automated method for identification of Tay-Sachs disease carriers by tear beta-hexosaminidase assay. Prog Clin Biol Res 1977 0.75
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324 Tay-Sachs disease: prospects for therapeutic intervention. Prog Clin Biol Res 1977 0.75
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353 Urinary screening of globoid-cell leukodystrophy. N Engl J Med 1971 0.75
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356 Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease. Tohoku J Exp Med 1995 0.75
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