H. Anne Simmonds
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H. Anne Simmonds's Degrees
- PhD Biochemistry University of California, Berkeley
- Bachelors Biology Stanford University
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(Suggest an Edit or Addition)H. Anne Simmonds's Published Works
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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Importance of Ribonucleotide Availability to Proliferating T-lymphocytes from Healthy Humans (1995) (296)
- Leflunomide Inhibits Pyrimidine de Novo Synthesis in Mitogen-stimulated T-lymphocytes from Healthy Humans* (1998) (253)
- Pyrimidine pathways in health and disease. (2005) (190)
- THE IMPORTANCE OF THIOPURINE METHYLTRANSFERASE ACTIVITY FOR THE USE OF AZATHIOPRINE IN TRANSPLANT RECIPIENTS1 (1992) (169)
- Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. (2003) (148)
- Gout, uric acid and purine metabolism in paediatric nephrology (1993) (137)
- Complete deficiency of adenine phosphoribosyltransferase. Report of a family. (1977) (129)
- T-lymphocytes from AIDS Patients Are Unable to Synthesize Ribonucleotides de Novo in Response to Mitogenic Stimulation (1995) (114)
- Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. (1996) (112)
- Beer drinking and its effect on uric acid. (1984) (101)
- A ROLE FOR PURINE METABOLISM IN THE IMMUNE RESPONSE: ADENOSINE-DEAMINASE ACTIVITY AND DEOXYADENOSINE CATABOLISM (1978) (101)
- Methotrexate inhibits the first committed step of purine biosynthesis in mitogen-stimulated human T-lymphocytes: a metabolic basis for efficacy in rheumatoid arthritis? (1999) (101)
- The identification of 2,8-dihydroxyadenine, a new component of urinary stones. (1976) (98)
- Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism. (1988) (92)
- A controlled study of diet in patients with gout. (1983) (90)
- Low-dose allopurinol plus azathioprine/ cyclosporin/prednisolone, a novel immunosuppressive regimen (1993) (85)
- Purines: Basic and Clinical Aspects (1991) (85)
- Demonstration of a combined deficiency of xanthine oxidase and aldehyde oxidase in xanthinuric patients not forming oxipurinol. (1990) (84)
- Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness. (1988) (83)
- Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency. (1994) (76)
- Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency. (1987) (76)
- Allopurinol treatment and its effect on renal function in gout: a controlled study. (1982) (71)
- Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease. (2002) (69)
- Polynesian women are also at risk for hyperuricaemia and gout because of a genetic defect in renal urate handling. (1994) (67)
- Urinary excretion of purines, pyrimidines and pyrazolopyrimidines in patients treated with allopurinol or oxipurinol. (1969) (66)
- Effect of methotrexate on blood purine and pyrimidine levels in patients with rheumatoid arthritis. (1999) (66)
- Use and abuse of allopurinol. (1987) (64)
- Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency. (2001) (63)
- Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency. (1987) (63)
- Adult presentation of adenosine deaminase deficiency (1993) (62)
- HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome. (1996) (60)
- Severe Impairment of Nucleotide Synthesis Through Inhibition of Mitochondrial Respiration (2004) (54)
- Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children (1998) (53)
- Familial gout and renal failure in young women. (1980) (53)
- Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease. (1991) (52)
- Precocious familial gout with reduced fractional urate clearance and normal purine enzymes. (1990) (51)
- AN X-LINKED SYNDROME CHARACTERISED BY HYPERURICAEMIA, DEAFNESS, AND NEURODEVELOPMENTAL ABNORMALITIES (1982) (51)
- When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications (1997) (47)
- Evaluation of MK-870: a new potassium-sparing diuretic. (1967) (46)
- Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child. (1979) (46)
- Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features. (1999) (45)
- Mycophenolic acid-induced GTP depletion also affects ATP and pyrimidine synthesis in mitogen-stimulated primary human T-lymphocytes. (2000) (45)
- Purine metabolism and immunodeficiency: urinary purine excretion as a diagnostic screening test in adenosine deaminase and purine nucleoside phosphorylase deficiency. (1978) (45)
- Hereditary hyperuricemia and renal disease. (2005) (45)
- GTP depletion and other erythrocyte abnormalities in inherited PNP deficiency. (1982) (43)
- Effects of novel anti-viral adenosine analogues on the activity of S-adenosylhomocysteine hydrolase from human liver. (1994) (41)
- Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients. (2002) (41)
- Mechanism and treatment of hypertriglyceridaemia in gout. (1979) (39)
- Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient. (2004) (38)
- Renal impairment and gout. (1980) (38)
- Uric acid, gout and the kidney. (1981) (37)
- Allopurinol in renal failure and the tumour lysis syndrome. (1986) (37)
- HPLC determination of oxidized and reduced pyridine coenzymes in human erythrocytes. (1993) (37)
- Two dimensional thin-layer high-voltage electrophoresis and chromatography for the separation of urinary purines, pyrimidines and pyrazolopyrimidines. (1969) (37)
- The conversion of 4-hydroxypyrazolo[3,4-d]pyrimidine (allopurinol) into 4,6-dihroxypyrazolo[3,4-d]pyrimidine (Oxipurinol) in vivo in the absence of xanthine-oxen oxidoreductase. (1969) (36)
- Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency. (1990) (36)
- Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency. (1996) (35)
- Importance of nicotinamide as an NAD precursor in the human erythrocyte. (1990) (35)
- Poster session 1 (2005) (34)
- Fast and slow methylators: do racial differences influence risk of allograft rejections? (1993) (34)
- A Novel Nucleotide Found in Human Erythrocytes, 4-Pyridone-3-carboxamide-1-β-d-ribonucleoside Triphosphate* (2006) (34)
- Accumulation of plasma N-methyl-2-pyridone-5-carboxamide in patients with chronic renal failure (2002) (34)
- 2,8-Dihydroxyadenine lithiasis. (1986) (33)
- Molybdenum cofactor deficiency – phenotypic variability in a family with a late‐onset variant (1998) (33)
- Renal failure due to 2,8-dihydroxyadenine urolithiasis (1982) (32)
- Mycophenolate mofetil, an inhibitor of inosine monophosphate dehydrogenase, causes a paradoxical elevation of GTP in erythrocytes of renal transplant patients. (2004) (32)
- Purine metabolism in adenosine deaminase deficiency. (1978) (32)
- Mycophenolate mofetil treatment following renal transplantation decreases GTP concentrations in mononuclear leucocytes. (2004) (31)
- Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay (1993) (30)
- Origin and characteristics of an unusual pyridine nucleotide accumulating in erythrocytes: positive correlation with degree of renal failure. (2003) (30)
- Metabolic studies of purine metabolism in the pig during the oral administration of guanine and allopurinol. (1973) (30)
- Use of biological fluids for the rapid diagnosis of potentially lethal inherited disorders of human purine and pyrimidine metabolism. (1986) (30)
- Rapid determination of purine enzyme activity in intact and lysed cells using high-performance liquid chromatography with and without radiolabelled substrates. (1983) (29)
- Use of a fundamental elution protocol for the development of reversed-phase high-performance liquid chromatography enabling rapid simultaneous determination of purines, pyrimidines and allied compounds commonly found in human biological fluids. (1985) (29)
- 2,8-Dihydroxyadeninuria--or when is a uric acid stone not a uric acid stone? (1979) (29)
- Prenatal diagnosis of three cases of severe combined immunodeficiency: severe T cell deficiency during the first half of gestation in fetuses with adenosine deaminase deficiency. (1984) (28)
- Reciprocal relationship between erythrocyte ATP and deoxy-ATP levels in inherited ADA deficiency. (1982) (28)
- The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk. (1994) (28)
- S-adenosylmethionine increases erythrocyte ATP in vitro by a route independent of adenosine kinase. (1990) (27)
- Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate. (1986) (27)
- Effects of adenosine analogues on ATP concentrations in human erythrocytes. Further evidence for a route independent of adenosine kinase. (1991) (27)
- Pyrimidines and CNS regulation. (1996) (27)
- Carrier erythrocyte entrapped adenosine deaminase therapy in adenosine deaminase deficiency. (2000) (27)
- A novel route of ATP synthesis. (1992) (26)
- Urolithiasis due to 2,8-dihydroxyadenine in an adult. (1981) (26)
- Micropuncture study of tubular transport of urate and PAH in the pig kidney. (1980) (25)
- An inborn error of purine metabolism, deafness and neurodevelopmental abnormality. (1985) (25)
- Allopurinol in the treatment of uraemic patients with gout. (1967) (25)
- Uric acid excretion by the pig kidney. (1976) (24)
- Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning (2001) (23)
- Experimental crystal nephropathy (one year study in the pig). (1975) (23)
- Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate-pyrophosphate phosphoribosyltransferase: a study of two families. (1978) (23)
- Acute renal failure due to xanthine stones (1995) (23)
- Human adenine phosphoribosyltransferase. Immunochemical quantitation and protein blot analysis of mutant forms of the enzyme. (1982) (23)
- A population study of Lesch–Nyhan disease in the UK (2011) (23)
- Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale. (2002) (23)
- Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity. (2005) (23)
- Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy. (1983) (22)
- Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy. (1977) (22)
- Purine enzyme defects as a cause of acute renal failure in childhood (1989) (22)
- Novel mechanism for the impairment of cell proliferation in HIV-1 infection. (1999) (22)
- Mechanisms of deoxyguanosine lymphotoxicity. Human thymocytes, but not peripheral blood lymphocytes accumulate deoxy-GTP in conditions simulating purine nucleoside phosphorylase deficiency. (1990) (22)
- MK 870: a new potassium-sparing diuretic. (1966) (22)
- Methylthioadenosine phosphorylase activity in human erythrocytes. (1983) (20)
- On the metabolism of allopurinol. Formation of allopurinol-1-riboside in purine nucleoside phosphorylase deficiency. (1983) (20)
- Succinylpurines induce neuronal damage in the rat brain. (1998) (20)
- Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency (1984) (19)
- Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol (1980) (19)
- Variations in allopurinol metabolism by xanthinuric subjects. (1974) (19)
- Familial gout and renal failure. (1981) (19)
- ATP formation from deoxyadenosine in human erythrocytes: Evidence for a hitherto unidentified route involving adenine and S-adenosylhomocysteine hydrolase (1989) (19)
- 4-Pyridone-3-carboxamide-1-β-D-ribonucleoside Triphosphate (4PyTP), a Novel NAD+ Metabolite Accumulating in Erythrocytes of Uremic Children: A Biomarker for a Toxic NAD+ Analogue in Other Tissues? (2011) (18)
- Fast and slow methylators: do racial differences influence risk of allograft rejection? (1993) (18)
- The effect of acid loading on renal excretion of uric acid and ammonium in gout. (1977) (18)
- A method of estimation of uric acid in urine and other body fluids (1967) (18)
- Purine and Pyrimidine Disorders (2003) (18)
- Importance of platelet-free preparations for evaluating lymphocyte nucleotide levels in inherited or acquired immunodeficiency syndromes. (1983) (18)
- Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders (1987) (18)
- Formation and degradation of deoxyadenosine nucleotides in inherited adenosine deaminase deficiency (1982) (18)
- Does allopurinol affect the progression of familial juvenile gouty nephropathy? (1991) (18)
- Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity. (1990) (17)
- Renal failure in young subjects with familial gout. (1980) (17)
- Separation of urinary purines and pyrimidines by isotachophoresis usefulness in screening for inborn errors of purine and pyrimidine metabolism (1979) (17)
- Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency. (1980) (16)
- Metabolism of 4-Pyridone-3-Carboxamide-1-ß-D- Ribonucleoside Triphosphate and Its Nucleoside Precursor in the Erythrocytes (2008) (16)
- Gout with apparent resistance to allopurinol (1983) (16)
- B cells as well as T cells form deoxynucleotides from either deoxyadenosine or deoxyguanosine. (1984) (16)
- Superoxide radicals, immunodeficiency and xanthine oxidase activity: man is not a mouse! (1985) (16)
- Adenoviruses Encoding HPRT Correct Biochemical Abnormalities of HPRT-Deficient Cells and Allow Their Survival in Negative Selection Medium (2004) (15)
- Normal uric acid concentrations in a purine nucleoside phosphorylase (PNP) deficient child presenting with severe chicken pox, possible immunodeficiency and developmental delay. (1994) (15)
- The entrapment of polyethylene glycol-bound adenosine deaminase (Pegademase) in human carrier erythrocytes. (1996) (15)
- Rapid prenatal diagnosis of adenosine deaminase deficiency and other purine disorders using foetal blood (1983) (15)
- Adenylosuccinate Lyase Deficiency—First British Case (2004) (15)
- Efficacy of Allopurinol in Ameliorating the Progressive Renal Disease in Familial Juvenile Hyperuricaemic Nephropathy (FJHN) (1998) (15)
- A controlled study of the effect of long term allopurinol treatment on renal function in gout. (1980) (14)
- Erythrocyte nucleotide stability and plasma hypoxanthine concentrations: improved ATP stability with short-term storage at room temperature. (1990) (14)
- Metabolism of deoxynucleosides by lymphocytes in long-term culture deficient in different purine enzymes. (1984) (14)
- 4-pyridone-3-carboxamide ribonucleoside triphosphate accumulating in erythrocytes in end stage renal failure originates from tryptophan metabolism (2007) (13)
- Screening tests for adenylosuccinase deficiency (1995) (13)
- Thiopurinol: comparative enzyme inhibition and protein binding studies with allopurinol, oxipurinol and 6-mercaptopurine. (1974) (13)
- Exogenous adenosine, supplied transiently during reperfusion, ameliorates depressed endogenous adenosine production in the post-ischemic rat heart. (1997) (13)
- Orotidine accumulation in human erythrocytes during allopurinol therapy: association with high urinary oxypurinol-7-riboside concentrations in renal failure and in the Lesch-Nyhan syndrome. (1991) (13)
- Human B lymphocytes and thymocytes but not peripheral blood mononuclear cells accumulate high dATP levels in conditions simulating ADA deficiency. (1985) (13)
- An Unusual Pyridine Nucleotide Accumulating in Erythrocytes: Its Identity, and Positive Correlation with Degree of Renal Failure (2004) (12)
- Purine metabolites in uraemia. (1987) (12)
- Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure. (1984) (12)
- Hypertension, renal function and gout. (1979) (12)
- A method for the determination of xanthine and hypoxanthine in biological fluids. (1967) (12)
- Purine nucleoside phosphorylase (PNP) deficiency: a therapeutic challenge. (1984) (12)
- Metabolism of intravenous adenine in the pig. (1977) (12)
- A Mutant of Sindbis Virus Which Is Able To Replicate in Cells with Reduced CTP Makes a Replicase/Transcriptase with a Decreased Km for CTP (2004) (11)
- Diagnosis of molybdenum cofactor deficiency (1999) (11)
- Familial renal disease or familial juvenile hyperuricaemic nephropathy? (1997) (11)
- Adenine Phosphoribosyltransferase Deficiency Presenting with Supposed ‘Uric Acid’ Stones: Pitfalls of Diagnosis1 (1978) (11)
- Metabolic studies of thiopurinol in man and the pig. (1974) (11)
- A New Cause of Urinary Calculi: 2,8-Dihydroxyadenine Stones in Supposed ‘Uric Acid’ Crystalluria (1976) (11)
- Enzymes of nucleotide biosynthesis: differences between intact and lysed cells as well as between species and tissues can be important. (1995) (10)
- Efficacy of allopurinol in ameliorating the progressive renal disease in familial juvenile hyperuricaemic nephropathy (FJHN). A six-year update. (1997) (10)
- Diagnosis and treatment of inborn errors of purine and pyrimidine metabolism: an overview. (1994) (10)
- Simultaneous separation by high-performance liquid chromatography of carbamoyl aspartate, carbamoyl phosphate and dihydroorotic acid. (1999) (10)
- Familial Juvenile Hyperuricaemic Nephropathy is not Such a Rare Genetic Metabolic Purine Disease in Britain (2006) (10)
- Azapropazone--a treatment for hyperuricaemia and gout? (1984) (10)
- Does low-dose allopurinol, with azathioprine, cyclosporin and prednisolone, improve renal transplant immunosuppression? (1994) (10)
- Hereditary orotic aciduria: further biochemistry. (1986) (9)
- A comparative study of purine metabolism by human and pig erythrocytes in vitro. (1973) (9)
- The effect of beer ingestion on plasma and urine uric acid in gout and normouricaemic subjects. (1984) (9)
- HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder. (2005) (9)
- Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency (1981) (8)
- Effect of red cell transfusions, thymic hormone and deoxycytidine in severe combined immunodeficiency due to adenosine deaminase deficiency. (1982) (8)
- Congenital chloride losing enteropathy associated with tophaceous gouty arthritis. (1991) (8)
- Hereditary xanthinuria (2020) (8)
- Determination of nicotinamide phosphoribosyltransferase activity in human erythrocytes: high-performance liquid chromatography-linked method. (1992) (8)
- Metabolism of endogenous purines (1991) (8)
- Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism (1997) (8)
- How should we treat tophaceous gout in patients with allopurinol hypersensitivity? (1998) (8)
- Restriction of a Sindbis virus mutant in BHK cells and relief of the restriction by the addition of adenosine. (2002) (8)
- Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency. (1999) (8)
- Familial juvenile hyperuricaemic nephropathy in adolescents. (1994) (8)
- Neurodevelopmental impairment and deranged PRPP and purine nucleotide synthesis in inherited superactivity of PRPP synthetase. (1989) (8)
- dATP accumulation and ATP depletion in platelets in adenosine deaminase deficiency: Significance for the immune response? (1984) (7)
- Influence of Purine Content of Diet and Allopurinol on Uric Acid and Oxalate Excretion Levels (1981) (7)
- Synthesis of Genomic and Subgenomic RNA in Mosquito Cells Infected with Two Sindbis Virus nsP4 Mutants: Influence of Intracellular Nucleoside Triphosphate Concentrations (2008) (7)
- Gout resistant to allopurinol: poor compliance or non-response. (1984) (7)
- Source and fate of circulating pyrimidines. (1986) (7)
- Inheritance of adenine phosphoribosyltransferase (APRT) deficiency. (1980) (7)
- GTP Concentrations are Elevated in Erythrocytes of Renal Transplant Recipients when Conventional Immunosuppression is Replaced by the Inosine Monophosphate Dehydrogenase Inhibitor Mycophenolic Acid Mofetil (MMF) (2004) (7)
- 2,8-Dihydroxyadenine lithiasis--epidemiology, pathogenesis and therapy. (1986) (7)
- Effect of Cladribine, fludarabine, and 5-aza-deoxycytidine on S-adenosylmethionine (SAM) and nucleotides pools in stimulated human lymphocytes. (1998) (7)
- Depressed adenosine and total purine catabolite production in the postischemic rat heart. (1993) (7)
- Deoxyadenosine metabolism in the erythrocytes of children with sever, combined immunodeficiency (1981) (7)
- Pregnancy in xanthinuria: Demonstration of fetal uric acid production? (1984) (7)
- Problems in diagnosis and treatment of adenine and hypoxanthine-guanine phosphoribosyltransferase deficiency. (1984) (7)
- Nicotinic acid phosphoribosyltransferase activity in human erythrocytes: studies using a new HPLC method. (1994) (7)
- Renal urate hypoexcretion preceding renal disease in a new kindred with familial juvenile gouty nephropathy (FJGN). (1991) (6)
- Erythrocyte GTP depletion in PNP deficiency presenting with haemolytic anaemia and hypouricaemia. (1986) (6)
- Precocious familial gout (1990) (6)
- The use and abuse of allopurinol in renal failure, the tumour lysis syndrome and HGPRT deficiency. (1986) (6)
- Urinary oxalate levels are not affected by dietary purine intake or allopurinol. (1987) (5)
- Thiopurine methyltransferase activity and efficacy of azathioprine immunosuppression in transplant recipients. (1991) (5)
- Correlations between purine levels, clinical and immunological status in ADA deficiency. (1986) (5)
- Exclusion of five candidate kidney disease loci by linkage analysis in familial juvenile hyperuricaemic nephropathy (2000) (5)
- Biochemical and immunological status following gene therapy and PEG-ADA therapy for adenosine deaminase (ADA) deficiency. (1994) (5)
- An unusual patient with kidney stones composed of 1-methyluric acid (2006) (5)
- What is the pathogenesis of familial gouty nephropathy? (1991) (5)
- Biochemical basis for the impaired immune response in chronic renal failure (1998) (5)
- NIACIN DEFICIENCY (1952) (5)
- Further evidence for a 'new' purine defect, inosine triphosphate (ITP) pyrophosphohydrolase deficiency. (1989) (4)
- The pig as an animal model for purine metabolic studies. (1974) (4)
- Long-term evolution of type 1 adenine phosphoribosyltransferase (APRT) deficiency. (1991) (4)
- Plasma uridine as well as uric acid is elevated following fructose loading. (1997) (4)
- Purine and pyrimidine metabolism in hereditary oroticaciduria during a 15 year follow-up study. (1979) (4)
- An improved screening method for inherited disorders of purine and pyrimidine metabolism by HPLC. (1991) (4)
- 775. The constitution of two piperitone dimers (1953) (4)
- Evaluation of adenine concentration in plasma of patients with renal failure using improved ultrafiltration technique. (1997) (4)
- Optimised conditions for the routine HPLC separation of nucleotides in cell extracts. (1989) (4)
- Thiopurinol and purine metabolism. Metabolic and radioisotope studies. (1974) (4)
- Adenosine deaminase deficiency with altered biochemical parameters in two sisters with late-onset immunodeficiency (1994) (4)
- Adenosine and deoxyadenosine metabolism in the erythrocytes of a patient with adenosine deaminase deficiency. (1980) (4)
- Allogeneic bone marrow transplantation corrects the immunodeficiency in PNP deficiency but does not reverse the neurological abnormalities (1999) (4)
- Effects of allopurinol and oxonic acid on pyrimidine metabolism in the pig. (1974) (4)
- Evidence of a new syndrome involving hereditary uric acid over-production, neurological complications and deafness. (1984) (4)
- ADA activity and DATP levels in erythrocytes after bone marrow transplantation. (2000) (4)
- A high performance liquid chromatographic assay for AMP-deaminase activity in the erythrocytes of healthy subjects and patients with inherited purine disorders. (1991) (4)
- Radioisotope studies of purine metabolism during administration of guanine and allopurinol in the pig. (1973) (4)
- When and how does one search for inborn errors of purine and pyrimidine metabolism? (1994) (4)
- Tissue specificity of purine metabolism (1991) (4)
- Erythrocyte Cdp-Choline Accumulation in Haemolytic Anaemia and Renal Failure (Rf) (1998) (4)
- Nucleotide levels in peripheral blood mononuclear cells of immunodeficient children: problems of measurement. (1984) (4)
- Allopurinol in treatment of patients with gout and chronic renal failure. (1967) (4)
- Raised IMP-dehydrogenase activity in the erythrocytes of a case of purine nucleoside phosphorylase (PNP) deficiency. (1991) (4)
- Identification of 6,8-dihydroxypurine in the urine of a gouty patient treated with allopurinol. (1970) (4)
- The high performance liquid chromatography of enzyme systems relating to purine and pyrimidine metabolism: an overview. (1990) (4)
- NAD synthesis in human erythrocytes: study of adenylyl transferase activities in patients bearing purine enzyme disorders. (1991) (4)
- 143 DeoxyGTP ACCUMULATES IN THYMOCYTES, BUT NOT IN T OR B LYMPHOCYTES IN SIMULATED PNP DEFICIENCY (1988) (4)
- Characteristic changes in erythrocyte nucleotides in haemolytic anaemia with basophilic stippling of differing aetiology (1999) (4)
- The Novel Nucleotide 4KNTP, in High Concentrations in Erythrocytes of Renal Failure Children: a Comparison with Accumulation of Other Putative Precursors in the Plasma (2006) (4)
- Screening for purine and pyrimidine disorders using dried urine spots. (2000) (3)
- Molecular characterization of a novel mutation in APRT heterozygotes. (1994) (3)
- The use of high resolution mass spectrometry to study purine metabolism in pigs. (1973) (3)
- CORRELATIONS BETWEEN PURINE LEVELS, CLINICAL AND.IMMUNOLOGICAL STATUS IN ADA DEFICIENCY: 192 (1985) (3)
- Purine and pyrimidine excretion in psoriasis: a comparison with healthy controls during allopurinol therapy. (1974) (3)
- Complete deficiency of adenine phosphoribosyltransferase: report of a family. (1977) (3)
- Heterogeneity of symptomatology in two male siblings with thymine uraciluria (1995) (3)
- Effect of galactosamine on adenine and uracil nucleotide levels in isolated hepatocytes of young and old rats. (1994) (3)
- Importance of the human erythrocyte in the diagnosis of inherited purine and pyrimidine disorders. (1990) (3)
- Marked hypouricemia in purine nucleoside phosphorylase deficiency--serendipitous finding on screen. (1996) (3)
- Tienilic acid in the treatment of gout and hypertension. (1980) (3)
- Nucleotide Degradation Products in Cerebrospinal Fluid (CSF) in Inherited and Acquired Pathologies (2004) (3)
- Gout and uric acid nephropathy: Some new aspects in diagnosis and treatment (1983) (3)
- The effect of allopurinol on oral purine absorption and excretion in the pig. (1974) (3)
- New perspectives in the diagnosis and treatment of adenosine deaminase (ADA) deficiency. (1984) (3)
- Differential absorption of purine nucleotides, nucleosides and bases. (1980) (3)
- Clinical consequences of aberrant purine metabolism (1991) (3)
- Adenoviruses encoding HPRT correct the biochemical abnormalities fully only in HPRT-deficient human cell lines: importance of species differences. (2000) (3)
- Severe debilitating polyarticular gout and terminal renal failure in an allopurinol 'non-responder'. (1998) (3)
- Plasma Uridine as well as Uric Acid is Elevated Following Fructose Loading (1998) (3)
- Absence of oroticaciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. (1978) (3)
- Exclusion of four candidate kidney disease loci by linkage analysis in familial juvenile hyperuricaemic nephropathy [FJHN] (1999) (3)
- Arrythmogenic Right Ventricular Dysplasia (2016) (3)
- Adenosine deaminase (ADA) deficiency as the unexpected cause of CD4+ T-lymphocytopenia in two HIV-negative adult female siblings. (1994) (3)
- Elevated Erythrocyte CDP‐Choline Levels Associated with β‐Thalassaemia in Patients with Transfusion Independent Anaemia (2004) (3)
- PURINE METABOLIC DISORDERS AND NEUROLOGICAL DYSFUNCTION (1991) (3)
- Variations in allopurinol metabolism by xanthinuric subjects. (1974) (3)
- Nucleic Acids, Purine, and Pyrimidine Nucleotides and Nucleosides: Physiology, Toxicology, and Dietary Sources (2013) (2)
- Erythrocyte GTP Depletion Associated with Severe Muscular Hypotonia in Three Inherited Disorders of Future Metabolism (1982) (2)
- Purine and pyrimidine catabolite production in the postischemic rat heart--effect of adenosine supply during reperfusion. (1994) (2)
- Erythrocyte CDP-choline accumulation in haemolytic anaemia and renal failure (RF). (1997) (2)
- Superactive UMP hydrolase: cause or consequence of haemolytic anaemia? (1991) (2)
- Inosine formation from hypoxanthine by intact erythrocytes and fibroblasts of an immunodeficient child with purine nucleoside phosphorylase deficiency. (1984) (2)
- Accelerated purine base salvage--a possible cause of elevated nucleotide pool in the erythrocytes of patients with uraemia. (1994) (2)
- Thiopurinol: dose-related effect on urinary oxypurine excretion. (1977) (2)
- Succinylpurines do not modify glutamate or adenosine effects in the CNS. (1998) (2)
- B-LYMPHOCYTES THYMOCYTES AND PLATELETS ACCUMULATE HIGH dATP LEVELS IN SIMULATED ADA DEFICIENCY: 69 (1985) (2)
- Acute intratubular crystal deposition causing permanent renal damage in the pig. (1973) (2)
- Identification of a 7-basepair deletion in the adenine phosphoribosyl-transferase gene as a cause of 2,8-dihydroxyadenine urolithiasis (1994) (2)
- HPLC assay of uridine monophosphate synthase (UMPS) in chorionic villus samples (CVS) and erythrocytes (RBC). (1991) (2)
- USEFULNESS OF INTACT ERYTHROCYTE STUDIES IN THE DIAGNOSIS OF INHERITED PURINE AND PYRIMIDINE DEFECTS: 62 (1985) (2)
- The Metabolic Effects of Carrier Erythrocyte Entrapped Adenosine Deaminase Therapy in An Adult Patient with Adenosine Deaminase Deficiency (1998) (2)
- Gout: The 'At Your Fingertips Guide' (2003) (2)
- Prenatal exclusion of purine nucleoside phosphorylase deficiency (1986) (2)
- Adenylosuccinate Lyase Deficiency — First British Case (2005) (2)
- Adenine Phosphoribosyltransferase Deficiency (2020) (2)
- Gout and crystal-related nephropathy. (1979) (2)
- Nutrition and Gout (1990) (2)
- Biochemical basis for the impaired immune response in chronic renal failure? (1997) (2)
- Genetic mechanism(s) responsible for a deficiency of adenine phosphoribosyltransferase in man. (1984) (2)
- Tienilic acid: a single treatment for hyperuricaemia and hypertension? (1980) (2)
- Inherited phosphoribosylpyrophosphate synthetase superactivity due to aberrant inhibitor and activator responsiveness. (1986) (2)
- The Entrapment of Polyethylene Glycol-Conjugated Adenosine Deaminase (Pegademase) and Native Adenosine Deaminase in Human Carrier Erythrocytes (1997) (2)
- Allopurinol and Dietary Purine Affect Urinary Uric Acid but not Urinary Oxalate Levels (1989) (1)
- Acute intratubular crystal deposition causing permanent renal damage in the pig. (1973) (1)
- Familial juvenile hyperuricaemic nephropathy. (2004) (1)
- A rapid screening method for inborn errors of purine and pyrimidine metabolism using isotachophoresis. (1979) (1)
- Usefulness of intact erythrocyte studies in the diagnosis of inherited purine and pyrimidine defects. (1986) (1)
- THE USE AND ABUSE OF ALLOPURINOL IN RENAL FAILURE THE TUMOUR LYSIS SYNDROME AND UROLITHIASIS: 24 (1985) (1)
- HEREDITARY OROTIC ACIDURIA : FURTHER BIOCHEMISTRY: 13 (1985) (1)
- 112 OPTIMISED CONDITIONS FOR THE ROUTINE HPLC SEPARATION OF NUCLEOTIDES IN CELL EXTRACTS (1988) (1)
- Prenatal diagnosis for severe combined immunodeficiency. (1983) (1)
- ‘Uric Add’ Stones in Children: Problems of Diagnosis and Treatment in a New Defect— Adenine Phosphoribosyltransferase Deficiency (1981) (1)
- Familial goutandrenal failure (1981) (1)
- EHNA is a poor inhibitor of deoxyadenosine catabolism in cultured human lymphocytes. (1985) (1)
- An Unusual Pyridine Nucleotide Accumulating in Erythrocytes: Its Identity and Positive Correlation with Degree of Renal Failure (2005) (1)
- Dihydropyrimidinuria Presenting in Childhood with Severe Developmental Retardation (1993) (1)
- Proceedings: Metabolic studies of thiopurinol in man and pig. (1974) (1)
- NAD synthesis by erythrocytes in phosphoribosylpyrophosphate synthetase (PRPPs) superactivity. (1989) (1)
- The Neuroleptic Chlorpromazine Inhibits the Cationic and Stimulates the Anionic Phospholipid Precursor Synthesis in Human Lymphocytes (2006) (1)
- Renal impairment andgout (1980) (1)
- An alternative pathway of adenylate and ATP synthesis. (1991) (1)
- Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells (2009) (1)
- PRODUCTION, NEUROLOGICAL COMPLICATIONS AND DEAFNESS (1984) (1)
- ANTENATAL DIAGNOSIS OF SEVERE COMBINED IMMUNODEFICIENCY (SCID) (1983) (1)
- dATP accumulation and ATP depletion in platelets in adenosine deaminase deficiency: Significance for the immune response? (1984) (1)
- Nervous system — cellular aspects (1991) (1)
- 142 FURTHER EVIDENCE FOR A ‘NEW’ PURINE DEFECT, INOSINE TRIPHOSPHATE (ITP) PYROPHOSPHOHYDROLASE DEFICIENCY (1988) (0)
- [Uric acid stones in children. Identification and therapy of a newly detected defect of adenine-phosphoribosyltransferase (author's transl)]. (1979) (0)
- Mechanism andtreatment ofhypertriglycerid aemia ingout (1979) (0)
- INHERITED PRPP SYNTHETASE SUPERACTIVITY DUE: TO ABERRANT INHIBITOR AND ACTIVATOR RESPONSIVENESS: 12 (1985) (0)
- Key lectures (2005) (0)
- Dedication to Francoise Roch‐Ramel (2004) (0)
- Nephrolithiasis in the Context of Purine Metabolism (1989) (0)
- Leflunomide and methotrexate inhibit T-lymphocyte proliferation by different molecular mechanisms involving purine and pyrimidine de novo synthesis (1999) (0)
- Adenomatous Polyposis, Familial (2009) (0)
- Renal failure associated with crystal-induced nephropathy and gout in a baby boy (1983) (0)
- 87 NAD SYNTHESIS BY ERYTHROCYTES IN PHOSPHORIBOSYL -PYROPHOSPHATE SYNTHETASE (PPRPs) SUPERACTIVITY (1988) (0)
- Extracellular activities — purine receptors and pharmacology (1991) (0)
- The separation and identification of purines and pyrimidines and pyrazolopyrimidines in biological fluids (T) (1970) (0)
- The excretion of urinary pseudouridine in patients treated with allopurinol and oxipurinol. (1969) (0)
- DIAGNOSIS OF MOLYBDENUM COFACTOR DEFICIENCY. AUTHORS' REPLY (1999) (0)
- Nucleotide catabolite release and myocardial contractility after short and prolonged ischemia (1991) (0)
- uridine monophosphate synthase deficiency (2022) (0)
- NucleosidePhosphorylase Deficiency-Serendipitous Findingon Screening (1996) (0)
- B-lymphocytes, thymocytes and platelets accumulate high dATP levels in simulated ADA deficiency. (1986) (0)
- The Excretion of Homogentisic Acid, Phenylalanine and Tyrosine in an Alkaptonuric Subject (2009) (0)
- Impaired pyrimidine responses to stimulation in T-lymphocytes from asymptomatic aids patients (1997) (0)
- Case Report Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient (2004) (0)
- Effects of Cladribine, Fludarabine and 5-aza-deoxycytidine on s-adenosylmethionine (SAM) and nucleotides pools in stimulated human lymphocytes (1997) (0)
- Deoxy GTP accumulates in thymocytes, but not in T or B lymphocytes in simulated PNP deficiency. (1989) (0)
- Elevated Erythrocyte CDP-Choline Levels Associated with β-Thalassaemia in Patients with Transfusion Independent Anaemia (2005) (0)
- Nucleotide levels and metabolism of adenosine and deoxyadenosine in intact erythrocytes deficient in adenosine deaminase. (1984) (0)
- Kelley-Seegmiller syndrome as a novel cause of gout in a female patient. (2001) (0)
- Andersen disease (2019) (0)
- Central nervous system — behaviour (1991) (0)
- NUCLEIC ACIDS | Physiology (2003) (0)
- A controlled study ofdiet inpatients withgout (1983) (0)
- Abstracts of oral presentations (2005) (0)
- Aortic Root to Right Heart Shunts (2009) (0)
- Severe debilitating polyarticular gout and terminal renal failure in an allopurinol non-responder (1997) (0)
- The influence of S-adenosylmethionine (SAM) on adenylate pool in isolated rat cardiomyocytes (1990) (0)
- Demonstration in living human cells that carbamoyl aspartate and carbamoyl phosphate accumulate when dihydro-orotate dehydrogenase is inhibited (1999) (0)
- Respiratory, gastrointestinal and other systems (1991) (0)
- Purine absorption and excretion (1991) (0)
- ERYTHROCYTE GTP DEPLETION IN PNP DEFICIENCY PRESENTING WITH HAEMOLYTIC ANAEMIA AND HYPODRICAEMIA: 193 (1985) (0)
- Changes in membrane phospholipid biosynthesis induced by chloropromasine and nucleoside analogues: its therapeutic consequences (1999) (0)
- Mechanism and treatment of hypertriglyceridaemia in gout 33 (0)
- Literature abstracts (2004) (0)
- Methods in Enzymology, Volume 51: Purine and Pyrimidine Nucleotide Metabolism (1979) (0)
- Synthesis of Genomic and Subgenomic RNA in Mosquito Cells Infected with Two Sindbis Virus nsP4 Mutants: Influence of Intracellular Nucleoside Triphosphate Concentrations (cid:1) template, the of synthe-* (2008) (0)
- Ciba Foundation Symposium No. 48 (New Series): Purine and Pyrimidine Metabolism (1977) (0)
- Chronic hemolytic anemia and accumulation of pyrimidine nucleotide metabolites (2015) (0)
- Renal urate hypoexcretion in Polynesian women is not as severe as in United Kingdom (UK) women with familial juvenile hyperuricaemic nephropathy (FJHN). (1994) (0)
- NAD synthesis in human erythrocytes: determination of the activities of some enzymes. (1991) (0)
- Allopurinol treatment andits effect on renal function ingout: acontrolled study (1982) (0)
- A Mutant of Sindbis Virus Which Is Able To Replicate in Cells with Reduced CTP Makes a Replicase/Transcriptase with a Decreased Km for CTP (2008) (0)
- SAH-hydrolase activity in haemolysate and intact erythrocytes; the effect of adenosine analogues. (1994) (0)
- SOURCE AND FATE OF CIRCULATING PYRIMIDINES: 81 (1985) (0)
- PRECOCIOUS FAMILIAL GOUT (1990) (0)
- Purine Metabolism and Exercise in McArdle's Disease (1991) (0)
- Reduced renal excretion of uric acid in the hirsutism-skeletal dysplasia--mental retardation syndrome. (1994) (0)
- Abstracts of Poster Presentations (2004) (0)
- Purines and the control of renal function (1991) (0)
- and renal failure in infancy . deficiency presenting with gout phosphoribosyl transferase Hypoxanthine guanine (0)
- Tienilic acid: asingle treatment forhyperuricaemia andhypertension? (1980) (0)
- How should we treat tophaceous gout in patients with allopurinolhypersensitivity (1997) (0)
- deficiency nucleotidase ' Genetic basis of hemolytic anemia caused by pyrimidine 5 (2013) (0)
- DISTINCT ROLES FOR OSTEOPONTIN IN KIDNEY STONE DISEASE (2002) (0)
- A SINGLE SYSTEM FOR THE EVALUATION OF PURINE AND PYRIMIDINE NUCLEOSIDES AND BASES TOGETHER WITH THEIR ANALOGUES IN BIOLOGICAL FLUIDS: 137 (1985) (0)
- Phthisis (1889) (0)
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