PubRank

T M Cox

Author PubWeight™ 102.96‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Recessive inheritance of erythropoietic protoporphyria with liver failure. Lancet 1994 2.42
2 A potent inhibitor of Taq polymerase copurifies with human genomic DNA. Nucleic Acids Res 1988 2.26
3 Anti-IL-4 treatment of Schistosoma mansoni-infected mice inhibits development of T cells and non-B, non-T cells expressing Th2 cytokines while decreasing egg-induced hepatic fibrosis. J Immunol 1994 2.25
4 Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. Cell 1988 2.24
5 Vitamin B-12 and folate deficiency presenting as leukaemia. BMJ 1990 2.05
6 Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis. Development 1996 1.88
7 Twin pairs showing discordance of phenotype in adult Gaucher's disease. QJM 2004 1.83
8 Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. QJM 1997 1.73
9 Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis 2004 1.45
10 Hereditary fructose intolerance. J Med Genet 1998 1.37
11 Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood 2000 1.33
12 The tau protein in human cerebrospinal fluid in Alzheimer's disease consists of proteolytically derived fragments. J Neurochem 1997 1.26
13 Transglutaminase activity is increased in Alzheimer's disease brain. Brain Res 1997 1.24
14 Uptake of iron by duodenal biopsy specimens from patients with iron-deficiency anaemia and primary haemochromatosis. Lancet 1978 1.24
15 Overlapping functions of lysosomal acid phosphatase (LAP) and tartrate-resistant acid phosphatase (Acp5) revealed by doubly deficient mice. Development 2001 1.19
16 DNA diagnosis of fatal fructose intolerance from archival tissue. Q J Med 1993 1.19
17 Iron binding proteins and influx of iron across the duodenal brush border. Evidence for specific lactotransferrin receptors in the human intestine. Biochim Biophys Acta 1979 1.18
18 Massive hepatic fibrosis in Gaucher's disease: clinico-pathological and radiological features. QJM 2000 1.18
19 Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide. J Inherit Metab Dis 2005 1.16
20 Basis of unique red cell membrane properties in hereditary ovalocytosis. J Mol Biol 1992 1.15
21 Osteoclastic tartrate-resistant acid phosphatase (Acp 5): its localization to dendritic cells and diverse murine tissues. J Histochem Cytochem 2000 1.12
22 Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. J Inherit Metab Dis 2001 1.11
23 A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. Nucleic Acids Res 1990 1.09
24 Type 5 acid phosphatase. Sequence, expression and chromosomal localization of a differentiation-associated protein of the human macrophage. Eur J Biochem 1990 1.07
25 Campylobacter pylori, duodenal ulcer disease, and gastrin. BMJ 1989 1.06
26 Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22. Genomics 1991 1.06
27 Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families. J Invest Dermatol 1990 1.06
28 Tartrate-resistant acid phosphatase (Acp 5): identification in diverse human tissues and dendritic cells. J Histochem Cytochem 2001 1.06
29 Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom. Q J Med 1989 1.04
30 The kinetics of iron uptake in vitro by human duodenal mucosa: studies in normal subjects. J Physiol 1979 1.03
31 Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disordered macrophage inflammatory responses and reduced clearance of the pathogen, Staphylococcus aureus. Immunology 2001 1.01
32 Genetic diagnosis of Gaucher's disease. Lancet 1992 1.01
33 Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. J Med Genet 1997 1.00
34 Remission of Crohn's disease with tuberculosis chemotherapy. N Engl J Med 1986 0.99
35 Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism. J Med Genet 2001 0.99
36 Juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet 1999 0.98
37 Limits on use of health economic assessments for rare diseases. QJM 2014 0.97
38 Intestinal iron uptake determined by divalent metal transporter is enhanced in HFE-deficient mice with hemochromatosis. Gastroenterology 2001 0.96
39 Purple acid phosphatase of the human macrophage and osteoclast. Characterization, molecular properties, and crystallization of the recombinant di-iron-oxo protein secreted by baculovirus-infected insect cells. J Biol Chem 1994 0.96
40 Medical education: catering for the carers as well as the innovators. Mol Med Today 1999 0.96
41 Dietary modifications in patients receiving miglustat. J Inherit Metab Dis 2010 0.94
42 Pseudodominant transmission of fructose intolerance in an adult and three offspring: Heterozygote detection by intestinal biopsy. N Engl J Med 1982 0.93
43 Localization of iron transport and regulatory proteins in human cells. QJM 2000 0.91
44 Biology and pathology of Schistosoma mansoni and Schistosoma japonicum infections in several strains of nude mice. Am J Trop Med Hyg 1993 0.90
45 B cell lymphoma and myeloma in murine Gaucher's disease. J Pathol 2013 0.90
46 Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease. Lancet 1996 0.89
47 Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. QJM 1998 0.89
48 In vitro studies of duodenal iron uptake in patients with primary and secondary iron storage disease. Q J Med 1980 0.89
49 Rôle of calcitonin in diarrhoea associated with medullary carcinoma of the thyroid. Gut 1979 0.89
50 Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. Hum Mol Genet 1994 0.89
51 Acute myopericarditis in influenza A infection. Q J Med 1986 0.88
52 Partial aldolase B gene deletions in hereditary fructose intolerance. Am J Hum Genet 1990 0.88
53 Biosynthesis of heme in immature erythroid cells. The regulatory step for heme formation in the human erythron. J Biol Chem 1988 0.88
54 Biosynthesis of delta-aminolevulinic acid and the regulation of heme formation by immature erythroid cells in man. J Biol Chem 1991 0.87
55 Aldolase B mutations in Italian families affected by hereditary fructose intolerance. J Med Genet 1991 0.87
56 Widespread expression of tartrate-resistant acid phosphatase (Acp 5) in the mouse embryo. J Anat 2000 0.86
57 Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis. J Biol Chem 2000 0.85
58 Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population. J Med Genet 1996 0.85
59 Allelic heterogeneity in adult hereditary fructose intolerance. Detection of structural mutations in the aldolase B molecule. Mol Biol Med 1983 0.84
60 The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme. J Med Genet 1993 0.84
61 Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens. J Clin Invest 1983 0.83
62 Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium. Nat Genet 1999 0.83
63 Calvarial osteoclasts express a higher level of tartrate-resistant acid phosphatase than long bone osteoclasts and activation does not depend on cathepsin K or L activity. Calcif Tissue Int 2006 0.83
64 Mice deficient in the urea-cycle enzyme, carbamoyl phosphate synthetase I, die during the early neonatal period from hyperammonemia. Hepatology 1999 0.83
65 Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease. J Inherit Metab Dis 2012 0.83
66 Studies on the binding of iron by rabbit intestinal microvillus membranes. Biochem J 1981 0.82
67 Hemin inhibits internalization of transferrin by reticulocytes and promotes phosphorylation of the membrane transferrin receptor. Proc Natl Acad Sci U S A 1985 0.82
68 Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria. J Invest Dermatol 1994 0.81
69 Antibodies to porcine uteroferrin used in measurement of human tartrate-resistant acid phosphatase. Clin Chem 1987 0.81
70 Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. J Med Genet 1994 0.81
71 Recessive inheritance of erythropoietic protoporphyria with liver failure. Lancet 1994 0.80
72 Gaucher's disease--an exemplary monogenic disorder. QJM 2001 0.80
73 Hereditary fructose intolerance. Baillieres Clin Gastroenterol 1990 0.80
74 Iron binding and the transport of iron across the rabbit intestinal brush border. Biochem Soc Trans 1981 0.79
75 Regression of hepatic lesions after treatment of Schistosoma mansoni or Schistosoma japonicum infection in mice: a comparative study. Am J Trop Med Hyg 1993 0.79
76 Autosomal recessive erythropoietic protoporphyria: a syndrome of severe photosensitivity and liver failure. QJM 1995 0.79
77 Biosynthesis of the transferrin receptor in rabbit reticulocytes. J Clin Invest 1985 0.79
78 Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance. Biochem J 1999 0.78
79 A newly identified aldolase B splicing mutation (G-->C, 5' intron 5) in hereditary fructose intolerance from New Zealand. Hum Mutat 1996 0.78
80 Generation and characterization of monoclonal antibodies to human type-5 tartrate-resistant acid phosphatase: development of a specific immunoassay of the isoenzyme in serum. Clin Chem 1995 0.78
81 Clinical evaluation of biomarkers in Gaucher disease. Acta Paediatr Suppl 2005 0.78
82 Studies on the control of iron uptake by rabbit small intestine. Br J Nutr 1982 0.78
83 Pancreatic exocrine and endocrine responses in chronic pancreatitis. Am J Gastroenterol 1984 0.78
84 Anti-interleukin-4 treatment diminishes secretion of Th2 cytokines and inhibits hepatic fibrosis in murine schistosomiasis japonica. Parasite Immunol 1995 0.78
85 Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. Am J Hum Genet 1995 0.78
86 Inherited disorders of iron storage and transport. Mol Med Today 1999 0.77
87 Regulation and expression of type V (tartrate-resistant) acid phosphatase in human mononuclear phagocytes. Mol Biol Med 1991 0.77
88 On fragmenting, densely mineralised acellular protrusions into articular cartilage and their possible role in osteoarthritis. J Anat 2014 0.77
89 Cyclophosphamide-induced liver necrosis: a possible interaction with azathioprine. Q J Med 1988 0.77
90 Molecular analysis of the human MHC class I region in hereditary haemochromatosis. A study by pulsed-field gel electrophoresis. Hum Genet 1990 0.77
91 Schistosoma japonicum-infected mice show reduced hepatic fibrosis and eosinophilia and selective inhibition of interleukin-5 secretion by CD4+ cells after treatment with anti-interleukin-2 antibodies. Infect Immun 1993 0.77
92 Micellar solubilization of intestinal lipids after ursodeoxycholic acid therapy in short bowel patients and healthy controls. Neth J Med 1981 0.77
93 Cellular mechanisms in the regulation of iron absorption by the human intestine: studies in patients with iron deficiency before and after treatment. Br J Haematol 1980 0.76
94 Successful treatment of bone marrow failure in Gaucher's disease with low-dose modified glucocerebrosidase. Q J Med 1992 0.76
95 Aldolase B mutations in Turkish families from central Anatolia. Genet Couns 2006 0.76
96 [Acute hepatorenal failure in hereditary fructose intolerance]. Med Klin (Munich) 1993 0.76
97 Zinc chelatase in human lymphocytes: detection of the enzymatic defect in erythropoietic protoporphyria. Anal Biochem 1988 0.75
98 Molecular analysis of functional and nonfunctional genes for human ferrochelatase: isolation and characterization of a FECH pseudogene and its sublocalization on chromosome 3. Genomics 1994 0.75
99 Quantifying the Erlenmeyer flask deformity. Br J Radiol 2011 0.75
100 Cost-effectiveness controversy. Pharmacoeconomics 1995 0.75
101 Liver failure in erythropoietic protoporphyria. J Am Acad Dermatol 1996 0.75
102 Therapeutic use of fructose: professional freedom, 'pharmacovigilance' and Europe. QJM 1995 0.75
103 Life threatening thrombocytopenia in sarcoidosis. BMJ 1990 0.75
104 Translational control of erythroid delta-aminolevulinate synthase in immature human erythroid cells by heme. Cell Mol Biol (Noisy-le-grand) 1997 0.75
105 Microvillar iron-binding glycoproteins isolated from the rabbit small intestine. Biochem J 1982 0.75
106 William Bateson, the rediscoverer of Mendel. J R Soc Med 2008 0.75
107 Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case. Hum Mutat 1999 0.75
108 Prevalence of the hemochromatosis gene. N Engl J Med 1980 0.75
109 The academic clinician. J R Coll Physicians Lond 2000 0.75
110 Iron absorption in small bowel. Lancet 1983 0.75
111 Hereditary ovalocytosis with compensated haemolysis. Br J Haematol 1993 0.75
112 Acute intermittent porphyria: fatal complications of treatment. Clin Med 2012 0.75
113 Hereditary fructose intolerance. Int J Biochem 1990 0.75
114 Pathological bone fractures preceded by sustained hypercalcaemia in type 1 Gaucher disease. J Inherit Metab Dis 1997 0.75
115 Imaging amyloidosis in Still's disease. BMJ 1989 0.75
116 Identification of a novel mutation (Leu256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance. Hum Mol Genet 1994 0.75
117 Clonal rearrangement of the T-cell receptor gamma gene associated with a bizarre lymphoproliferative syndrome. Eur J Haematol 1988 0.75
118 Mendel and his legacy. QJM 1999 0.75
119 A novel HEXB mutation and its structural effects in juvenile Sandhoff disease. Mol Genet Metab 2008 0.75
120 An immunoassay of human band 5 ("tartrate-resistant") acid phosphatase that involves the use of anti-porcine uteroferrin antibodies. Clin Chem 1989 0.75
121 Dinucleotide repeat polymorphism at the locus for human ferrochelatase (FECH). Hum Mol Genet 1993 0.75
122 Molecular forms of porphobilinogen deaminase in acute intermittent porphyria. A study by Western immunoblotting. Q J Med 1987 0.75
123 Skeletal muscle weakness and dysphagia caused by acid maltase deficiency: nutritional consequences of coincident celiac sprue. JPEN J Parenter Enteral Nutr 1997 0.75