Published in Cell on June 17, 1988
A potent inhibitor of Taq polymerase copurifies with human genomic DNA. Nucleic Acids Res (1988) 2.26
Hereditary fructose intolerance. J Med Genet (1998) 1.37
An independent diagnosis. BMJ (1990) 1.03
Molecular evidence for compound heterozygosity in hereditary fructose intolerance. Am J Hum Genet (1990) 1.00
Iatrogenic deaths in hereditary fructose intolerance. Arch Dis Child (1993) 0.95
Expression of rat liver ketohexokinase in yeast results in fructose intolerance. Biochem J (1993) 0.93
Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene. Am J Hum Genet (1990) 0.91
Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. J Inherit Metab Dis (2009) 0.90
Partial aldolase B gene deletions in hereditary fructose intolerance. Am J Hum Genet (1990) 0.88
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. Am J Hum Genet (1993) 0.88
Aldolase B mutations in Italian families affected by hereditary fructose intolerance. J Med Genet (1991) 0.87
The biochemical basis of hereditary fructose intolerance. J Inherit Metab Dis (2010) 0.86
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
Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance. Am J Hum Genet (1991) 0.83
RNA interference-induced hepatotoxicity results from loss of the first synthesized isoform of microRNA-122 in mice. Nat Med (2016) 0.82
Null alleles of the aldolase B gene in patients with hereditary fructose intolerance. J Med Genet (1994) 0.81
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. Am J Hum Genet (1997) 0.81
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance. JIMD Rep (2012) 0.79
Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance. Biochem J (1999) 0.78
Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance. Am J Hum Genet (1995) 0.78
Mutation analysis in Turkish patients with hereditary fructose intolerance. J Inherit Metab Dis (2001) 0.76
Hereditary fructose intolerance in Brazilian patients. Mol Genet Metab Rep (2015) 0.75
A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance. Gut Liver (2012) 0.75
Molecular analysis of aldolase B genes in hereditary fructose intolerance. Lancet (1990) 3.28
Recessive inheritance of erythropoietic protoporphyria with liver failure. Lancet (1994) 2.42
A potent inhibitor of Taq polymerase copurifies with human genomic DNA. Nucleic Acids Res (1988) 2.26
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
Vitamin B-12 and folate deficiency presenting as leukaemia. BMJ (1990) 2.05
Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis. Development (1996) 1.88
Twin pairs showing discordance of phenotype in adult Gaucher's disease. QJM (2004) 1.83
The hisT-purF region of the Escherichia coli K-12 chromosome. Identification of additional genes of the hisT and purF operons. J Biol Chem (1987) 1.82
The complete amino Acid sequence for the anaerobically induced aldolase from maize derived from cDNA clones. Plant Physiol (1986) 1.78
Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. QJM (1997) 1.73
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis (2004) 1.45
Homology of the amyloid beta protein precursor in monkey and human supports a primate model for beta amyloidosis in Alzheimer's disease. Am J Pathol (1991) 1.43
Hereditary fructose intolerance. J Med Genet (1998) 1.37
Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood (2000) 1.33
The molecular nature of the F-actin binding activity of aldolase revealed with site-directed mutants. J Biol Chem (1996) 1.32
Complete amino acid sequence for human aldolase B derived from cDNA and genomic clones. Proc Natl Acad Sci U S A (1984) 1.30
The complete nucleotide sequence for rabbit muscle aldolase A messenger RNA. J Biol Chem (1984) 1.30
The tau protein in human cerebrospinal fluid in Alzheimer's disease consists of proteolytically derived fragments. J Neurochem (1997) 1.26
Transglutaminase activity is increased in Alzheimer's disease brain. Brain Res (1997) 1.24
Uptake of iron by duodenal biopsy specimens from patients with iron-deficiency anaemia and primary haemochromatosis. Lancet (1978) 1.24
Site-directed mutagenesis identifies aspartate 33 as a previously unidentified critical residue in the catalytic mechanism of rabbit aldolase A. J Biol Chem (1993) 1.22
Overlapping functions of lysosomal acid phosphatase (LAP) and tartrate-resistant acid phosphatase (Acp5) revealed by doubly deficient mice. Development (2001) 1.19
DNA diagnosis of fatal fructose intolerance from archival tissue. Q J Med (1993) 1.19
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
Massive hepatic fibrosis in Gaucher's disease: clinico-pathological and radiological features. QJM (2000) 1.18
Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide. J Inherit Metab Dis (2005) 1.16
Basis of unique red cell membrane properties in hereditary ovalocytosis. J Mol Biol (1992) 1.15
Osteoclastic tartrate-resistant acid phosphatase (Acp 5): its localization to dendritic cells and diverse murine tissues. J Histochem Cytochem (2000) 1.12
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. J Inherit Metab Dis (2001) 1.11
A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. Nucleic Acids Res (1990) 1.09
Type 5 acid phosphatase. Sequence, expression and chromosomal localization of a differentiation-associated protein of the human macrophage. Eur J Biochem (1990) 1.07
Protein topography of the 40 S ribosomal subunit from rabbit reticulocytes shown by cross-linking with 2-iminothiolane. J Biol Chem (1981) 1.07
Campylobacter pylori, duodenal ulcer disease, and gastrin. BMJ (1989) 1.06
Assignment of the human ferrochelatase gene (FECH) and a locus for protoporphyria to chromosome 18q22. Genomics (1991) 1.06
Lysine-146 of rabbit muscle aldolase is essential for cleavage and condensation of the C3-C4 bond of fructose 1,6-bis(phosphate). Biochemistry (1994) 1.06
Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families. J Invest Dermatol (1990) 1.06
Tartrate-resistant acid phosphatase (Acp 5): identification in diverse human tissues and dendritic cells. J Histochem Cytochem (2001) 1.06
Snapshots of catalysis: the structure of fructose-1,6-(bis)phosphate aldolase covalently bound to the substrate dihydroxyacetone phosphate. Biochemistry (2001) 1.06
Crosslinking of eukaryotic initiation factor eIF3 to the 40S ribosomal subunit from rabbit reticulocytes. Biochimie (1983) 1.04
Radioiodination of microgram quantities of ribosomal proteins from polyacrylamide gels. Anal Biochem (1980) 1.04
Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom. Q J Med (1989) 1.04
The kinetics of iron uptake in vitro by human duodenal mucosa: studies in normal subjects. J Physiol (1979) 1.03
Characterization of the human aldolase B gene. Mol Biol Med (1986) 1.03
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
Genetic diagnosis of Gaucher's disease. Lancet (1992) 1.01
Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. J Med Genet (1997) 1.00
Molecular evidence for compound heterozygosity in hereditary fructose intolerance. Am J Hum Genet (1990) 1.00
The complete amino acid sequence of the human aldolase C isozyme derived from genomic clones. Biochimie (1987) 1.00
Remission of Crohn's disease with tuberculosis chemotherapy. N Engl J Med (1986) 0.99
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
Juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet (1999) 0.98
Subunit interface mutants of rabbit muscle aldolase form active dimers. Protein Sci (1994) 0.98
Spot-blot analysis of sorted chromosomes assigns a fructose intolerance disease locus to chromosome 9. Cytometry (1985) 0.98
The structure of human liver fructose-1,6-bisphosphate aldolase. Acta Crystallogr D Biol Crystallogr (2001) 0.98
Limits on use of health economic assessments for rare diseases. QJM (2014) 0.97
Intestinal iron uptake determined by divalent metal transporter is enhanced in HFE-deficient mice with hemochromatosis. Gastroenterology (2001) 0.96
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
Medical education: catering for the carers as well as the innovators. Mol Med Today (1999) 0.96
Structure of a fructose-1,6-bis(phosphate) aldolase liganded to its natural substrate in a cleavage-defective mutant at 2.3 A(,). Biochemistry (1999) 0.95
Dietary modifications in patients receiving miglustat. J Inherit Metab Dis (2010) 0.94
Pseudodominant transmission of fructose intolerance in an adult and three offspring: Heterozygote detection by intestinal biopsy. N Engl J Med (1982) 0.93
Construction of a high-copy "ATG vector" for expression in Escherichia coli. Protein Expr Purif (1992) 0.92
Differential usage of the carboxyl-terminal region among aldolase isozymes. J Biol Chem (1993) 0.91
The purification and characterization of multiple forms of protein synthesis eukaryotic initiation factors 2, 3, and 5 from rabbit reticulocytes. J Biol Chem (1981) 0.91
Localization of iron transport and regulatory proteins in human cells. QJM (2000) 0.91
Biology and pathology of Schistosoma mansoni and Schistosoma japonicum infections in several strains of nude mice. Am J Trop Med Hyg (1993) 0.90
B cell lymphoma and myeloma in murine Gaucher's disease. J Pathol (2013) 0.90
Therapeutic delivery of proteins to macrophages: implications for treatment of Gaucher's disease. Lancet (1996) 0.89
In vitro studies of duodenal iron uptake in patients with primary and secondary iron storage disease. Q J Med (1980) 0.89
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
Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. QJM (1998) 0.89
Rôle of calcitonin in diarrhoea associated with medullary carcinoma of the thyroid. Gut (1979) 0.89
Acute myopericarditis in influenza A infection. Q J Med (1986) 0.88
Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. Am J Hum Genet (1993) 0.88
Biosynthesis of heme in immature erythroid cells. The regulatory step for heme formation in the human erythron. J Biol Chem (1988) 0.88
Partial aldolase B gene deletions in hereditary fructose intolerance. Am J Hum Genet (1990) 0.88
Biosynthesis of delta-aminolevulinic acid and the regulation of heme formation by immature erythroid cells in man. J Biol Chem (1991) 0.87
Disruption of the aldolase A tetramer into catalytically active monomers. Proc Natl Acad Sci U S A (1996) 0.87
Aldolase B mutations in Italian families affected by hereditary fructose intolerance. J Med Genet (1991) 0.87
Widespread expression of tartrate-resistant acid phosphatase (Acp 5) in the mouse embryo. J Anat (2000) 0.86
Alternative splicing of fructose 1,6-bisphosphate aldolase transcripts in Drosophila melanogaster predicts three isozymes. J Biol Chem (1992) 0.86
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
Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis. J Biol Chem (2000) 0.85
Characterization of recombinant human aldolase B and purification by metal chelate chromatography. Biochem Biophys Res Commun (1995) 0.85
Metabolic compartmentation in living cells: structural association of aldolase. Exp Cell Res (1997) 0.84
Allelic heterogeneity in adult hereditary fructose intolerance. Detection of structural mutations in the aldolase B molecule. Mol Biol Med (1983) 0.84
The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme. J Med Genet (1993) 0.84
A lysine to arginine substitution at position 146 of rabbit aldolase A changes the rate-determining step to Schiff base formation. Protein Eng (1996) 0.84
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
Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance. Am J Hum Genet (1991) 0.83
Mice deficient in the urea-cycle enzyme, carbamoyl phosphate synthetase I, die during the early neonatal period from hyperammonemia. Hepatology (1999) 0.83
Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium. Nat Genet (1999) 0.83
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
Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease. J Inherit Metab Dis (2012) 0.83
Identification of neuronal isozyme specific residues by comparison of goldfish aldolase C to other aldolases. Comp Biochem Physiol A Physiol (1997) 0.82
Studies on the binding of iron by rabbit intestinal microvillus membranes. Biochem J (1981) 0.82
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
Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria. J Invest Dermatol (1994) 0.81
A partially active mutant aldolase B from a patient with hereditary fructose intolerance. FASEB J (1994) 0.81