Published in Adv Exp Med Biol on January 01, 1977
Inborn errors of purine and pyrimidine metabolism. J Inherit Metab Dis (2009) 1.06
Absence of hepatic molybdenum cofactor: an inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenase. J Inherit Metab Dis (1983) 0.90
Reduced replication of 3TC-resistant HIV-1 variants in primary cells due to a processivity defect of the reverse transcriptase enzyme. EMBO J (1996) 3.92
Serum immunoglobulin levels in healthy children and adults. Clin Exp Immunol (1969) 2.15
Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency. N Engl J Med (1977) 2.12
Characterization of protein tyrosine kinases from human breast cancer: involvement of the c-src oncogene product. Cancer Res (1992) 2.00
Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene. Clin Cancer Res (2000) 1.91
Mechanisms of host defense against infection with Streptococcus pneumoniae. Clin Infect Dis (1992) 1.86
Quantification of IgG subclasses in sera of normal adults and healthy children between 4 and 12 years of age. Clin Exp Immunol (1975) 1.68
Disorders of mitochondrial fatty acyl-CoA beta-oxidation. J Inherit Metab Dis (1999) 1.67
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis (1980) 1.67
Deoxyguanosine triphosphate as a possible toxic metabolite in the immunodeficiency associated with purine nucleoside phosphorylase deficiency. J Clin Invest (1978) 1.61
Redox regulation of signal transduction: tyrosine phosphorylation and calcium influx. Proc Natl Acad Sci U S A (1994) 1.55
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation. J Inherit Metab Dis (1990) 1.55
X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. Am J Hum Genet (1993) 1.48
Serum creatinine values in healthy children. Acta Paediatr Scand (1970) 1.47
Recognition of human 60 kD heat shock protein by mononuclear cells from patients with juvenile chronic arthritis. Lancet (1991) 1.45
Glutaric aciduria type II: report on a previously undescribed metabolic disorder. Clin Chim Acta (1976) 1.44
Effect of carrier priming on immunogenicity of saccharide-protein conjugate vaccines. Infect Immun (1991) 1.42
Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor. Proc Natl Acad Sci U S A (1980) 1.39
Determination of the absolute configuration of some biologically important urinary 2-hydroxydicarboxylic acids by capillary gas--liquid chromatography. J Chromatogr (1981) 1.36
Aberrant recombination events in B cell lines derived from a kappa-deficient human. Nucleic Acids Res (1985) 1.33
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatrics (1986) 1.33
Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects. J Inherit Metab Dis (1999) 1.32
Purification and properties of glutathione reductase of human erythrocytes. Biochim Biophys Acta (1969) 1.31
Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles. Pediatr Res (1977) 1.29
Human erythrocyte pyruvate kinase. Its purification and some properties. Biochim Biophys Acta (1971) 1.25
Fc gamma receptor IIa (CD32) heterogeneity in patients with recurrent bacterial respiratory tract infections. J Infect Dis (1994) 1.25
Human immunoglobulin G (IgG) Fc receptor IIA (CD32) polymorphism and IgG2-mediated bacterial phagocytosis by neutrophils. Infect Immun (1995) 1.24
Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency. Clin Cancer Res (2001) 1.22
Two distinct genetic loci regulating class II gene expression are defective in human mutant and patient cell lines. EMBO J (1988) 1.22
Alpha-chain disease with involvement of the respiratory tract in a Dutch child. Clin Exp Immunol (1971) 1.22
Characterization of alpha-L-fucosidase from two different families with fucosidosis. Clin Chim Acta (1976) 1.20
A comparative study of the immunogenicity of pneumococcal type 4 polysaccharide and oligosaccharide tetanus toxoid conjugates in adult mice. J Immunol (1991) 1.19
Gene deletion and gene duplication within the cluster of human heavy-chain genes. Selective absence of IgG sub-classes. J Immunogenet (1980) 1.18
Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia. Biochemistry (1995) 1.17
Regulation of B cell activity in man: role of T cells. Immunol Rev (1979) 1.17
A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. J Inherit Metab Dis (1996) 1.16
Inherited deficiency of the third component of complement associated with recurrent pyogenic infections, circulating immune complexes, and vasculitis in a Dutch family. Pediatrics (1983) 1.16
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol (1992) 1.16
Treatment of a patient with histidinemia. Acta Paediatr Scand (1967) 1.15
Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet (1989) 1.15
Antibodies to the mycobacterial 65-kd heat-shock protein are reactive with synovial tissue of adjuvant arthritic rats and patients with rheumatoid arthritis and osteoarthritis. Am J Pathol (1990) 1.14
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts. J Inherit Metab Dis (1996) 1.13
Anti-capsular polysaccharide antibody deficiency states. Immunodeficiency (1993) 1.12
Antibodies to human HSP60 in patients with juvenile chronic arthritis, diabetes mellitus, and cystic fibrosis. Pediatr Res (1993) 1.11
Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders. J Inherit Metab Dis (1999) 1.11
Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W. Hum Genet (1997) 1.10
Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes. J Clin Invest (1996) 1.09
New defects of pyrimidine metabolism. Adv Exp Med Biol (1984) 1.08
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr (1988) 1.08
D-lactic aciduria, an inborn error of metabolism? Clin Chim Acta (1977) 1.08
Application of specialized techniques for specific staining of peptide maps on various media. Biochim Biophys Acta (1969) 1.07
Clinical features of galactokinase deficiency: a review of the literature. J Inherit Metab Dis (2002) 1.07
Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism. Clin Chim Acta (1984) 1.07
Selective severe cellular immunodeficiency. Effect of thymus transplantation and transfer factor administration. Clin Immunol Immunopathol (1976) 1.06
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid. Eur J Pediatr (1984) 1.06
Juvenile chronic arthritis: T cell reactivity to human HSP60 in patients with a favorable course of arthritis. J Clin Invest (1995) 1.04
Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport? J Inherit Metab Dis (1978) 1.04
Pneumococcal polysaccharides complexed with C3d bind to human B lymphocytes via complement receptor type 2. Infect Immun (1991) 1.03
An abnormal form of purine nucleoside phosphorylase in a family with a child with severe defective T-cell-and normal B-cell immunity. Clin Chim Acta (1976) 1.03
Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry. J Chromatogr B Biomed Sci Appl (1998) 1.03
Pneumococcal antibodies in IgA of serum and external secretions. Clin Exp Immunol (1970) 1.03
Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids. J Pediatr (1985) 1.02
Autoreactivity to human heat-shock protein 60 predicts disease remission in oligoarticular juvenile rheumatoid arthritis. Arthritis Rheum (1996) 1.01
Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity. Eur J Cancer (1997) 1.01
Tyrosine kinase activity in breast cancer, benign breast disease, and normal breast tissue. Cancer Res (1989) 1.01
Pyruvate kinase activity and isozyme composition in normal fibrous tissue and fibroblastic proliferations. Cancer (1991) 1.00
Studies on the incorporation of precursors into purine and pyrimidine nucleotides via 'de novo' and 'salvage' pathways in normal lymphocytes and lymphoblastic cell-line cells. Biochim Biophys Acta (1989) 1.00
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome. Immunol Today (1996) 1.00
Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism. J Pediatr (1982) 1.00
A patient with alpha-ketoadipic and alpha-aminoadipic aciduria. J Inherit Metab Dis (1984) 0.99
Infant B cell responses to polysaccharide determinants. Vaccine (1998) 0.99
The development of independence in adolescents with cystic fibrosis. J Adolesc Health Care (1988) 0.99
Purification and some properties of human erythrocyte hexokinase. Biochim Biophys Acta (1976) 0.99
Defective antipneumococcal polysaccharide antibody response in children with recurrent respiratory tract infections. J Allergy Clin Immunol (1993) 0.99
Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies. Clin Chim Acta (1975) 0.99
Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosaemia. Prenat Diagn (1988) 0.98
Immunologic studies in Turner syndrome before and during treatment with growth hormone. The Dutch Growth Hormone Working Group. J Pediatr (1991) 0.98
Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome. J Pediatr (1985) 0.98
Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips. Clin Chem (2000) 0.97
Heterogeneity of immune defects in three children with a chronic active Epstein-Barr virus infection. J Clin Immunol (1985) 0.97
The reaction mechanism of glutathione reductase from human erythrocytes. Biochim Biophys Acta (1969) 0.97
Isoenzymes of phosphofructokinase in the rat. Demonstration of the three non-identical subunits by biochemical, immunochemical and kinetic studies. Biochem J (1985) 0.96
Glycolytic enzyme activities in breast cancer metastases. Tumour Biol (1988) 0.96
Expression and functional characteristics of the complement receptor type 2 on adult and neonatal B lymphocytes. Clin Immunol Immunopathol (1993) 0.95