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List of works by Anne Simmonds

2,8-Dihydroxyadenine lithiasis

scientific article published on 01 October 1986

2,8-Dihydroxyadenine lithiasis--epidemiology, pathogenesis and therapy

scientific article published in January 1986

2,8-Dihydroxyadenine urolithiasis

scientific article published on 01 May 1992

2,8-Dihydroxyadeninuria--or when is a uric acid stone not a uric acid stone?

scientific article published on November 1, 1979

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?

scientific article

4-pyridone-3-carboxamide ribonucleoside triphosphate accumulating in erythrocytes in end stage renal failure originates from tryptophan metabolism

scientific article published in December 2007

A Mutant of Sindbis Virus Which Is Able To Replicate in Cells with Reduced CTP Makes a Replicase/Transcriptase with a Decreased for CTP

scientific article published in July 2008

A Rapid Screening Method for Inborn Errors of Purine and Pyrimidine Metabolism Using Isotachophoresis ⬇️

scientific article published on 01 January 1979

A comparative study of purine metabolism by human and pig erythrocytes in vitro

scientific article published on 01 December 1973

A controlled study of diet in patients with gout

scientific article published on April 1983

A controlled study of the effect of long term allopurinol treatment on renal function in gout

scientific article published on 01 January 1980

A high performance liquid chromatographic assay for AMP-deaminase activity in the erythrocytes of healthy subjects and patients with inherited purine disorders

scientific article

A method for the determination of xanthine and hypoxanthine in biological fluids ⬇️

scientific article published on 01 April 1967

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.

scientific article

A new mechanism of toxicity of 2-chlorodeoxyadenosine (2CdA).

scientific article published in January 1994

A novel nucleotide found in human erythrocytes, 4-pyridone-3-carboxamide-1-beta-D-ribonucleoside triphosphate

scientific article published on 17 August 2006

A novel route of ATP synthesis ⬇️

scientific article published on May 28, 1992

A population study of Lesch-Nyhan disease in the UK ⬇️

scientific article published on September 24, 2010

A role for purine metabolism in the immune response: Adenosine-deaminase activity and deoxyadenosine catabolism

scientific article published on January 1978

A single system for the evaluation of purine and pyrimidine nucleosides and bases together with their analogues in biological fluids

scientific article published on 01 January 1986

ADA Activity and dATP Levels in Erythrocytes after Bone Marrow Transplantation ⬇️

scientific article published on 01 January 2000

ATP formation from deoxyadenosine in human erythrocytes: evidence for a hitherto unidentified route involving adenine and S-adenosylhomocysteine hydrolase

scientific article published on 01 February 1989

Absence of oroticaciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency ⬇️

scientific article published on October 1, 1978

Accelerated purine base salvage--a possible cause of elevated nucleotide pool in the erythrocytes of patients with uraemia

scientific article published on 01 January 1994

Accumulation of plasma N-methyl-2-pyridone-5-carboxamide in patients with chronic renal failure

scientific article

Acute intratubular crystal deposition causing permanent renal damage in the pig.

scientific article published on July 1973

Acute renal failure due to xanthine stones ⬇️

scientific article published on August 1, 1995

Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate-pyrophosphate phosphoribosyltransferase: a study of two families

scientific article published on 01 October 1978

Adenine phosphoribosyltransferase deficiency presenting with supposed 'uric acid' stones: pitfalls of diagnosis.

scientific article

Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis

scientific journal article

Adenosine Deaminase (ADA) Deficiency as the Unexpected Cause of CD4+ T-Lymphocytopenia in Two HIV-Negative Adult Female Siblings ⬇️

scientific article published on 01 January 1994

Adenosine and deoxyadenosine metabolism in the erythrocytes of a patient with adenosine deaminase deficiency

scientific article published on 01 January 1980

Adenosine deaminase deficiency with altered biochemical parameters in two sisters with late-onset immunodeficiency

scientific article published on 01 January 1994

Adenoviruses Encoding HPRT Correct the Biochemical Abnormalities Fully Only in HPRT-Deficient Human Cell Lines: Importance of Species Differences ⬇️

scientific article published on January 1, 2000

Adenoviruses encoding HPRT correct biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium

scientific article published in December 1999

Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features

scientific article published in January 1999

Adenylosuccinate lyase deficiency--first British case

scientific article published in October 2004

Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency

scientific article published on 01 September 1994

Adult presentation of adenosine deaminase deficiency

scientific article published on 01 June 1993

Allopurinol in renal failure and the tumour lysis syndrome

scientific article published on 01 October 1986

Allopurinol in the treatment of uraemic patients with gout ⬇️

scientific article published on March 1967

Allopurinol in treatment of patients with gout and chronic renal failure

scientific article published on 01 September 1967

Allopurinol kinetics after massive overdosage

scientific article published on 01 May 1988

Allopurinol treatment and its effect on renal function in gout: a controlled study

scientific article

Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism ⬇️

scientific article published on February 15, 1988

An Improved Screening Method for Inherited Disorders of Purine and Pyrimidine Metabolism by HPLC ⬇️

scientific article published on 01 January 1991

An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities

scientific article

An alternative pathway of adenylate and ATP synthesis

scientific article published on 01 January 1991

An inborn error of purine metabolism, deafness and neurodevelopmental abnormality

scientific article published in May 1985

An unusual patient with kidney stones composed of 1-methyluric acid

scientific article published on 6 January 2006

An unusual pyridine nucleotide accumulating in erythrocytes: its identity and positive correlation with degree of renal failure

scientific article published in October 2004

Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity

scientific article published in September 2005

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation

scientific article

Azapropazone--a treatment for hyperuricaemia and gout?

scientific article published on 01 February 1984

B cells as well as T cells form deoxynucleotides from either deoxyadenosine or deoxyguanosine

scientific article

B-lymphocytes, thymocytes and platelets accumulate high dATP levels in simulated ADA deficiency

scientific article published on 01 January 1986

Beer drinking and its effect on uric acid

scientific article published on 01 August 1984

Biochemical and Immunological Status Following Gene Therapy and PEG-ADA Therapy for Adenosine Deaminase (ADA) Deficiency ⬇️

scientific article published on January 1, 1994

Biochemical basis for the impaired immune response in chronic renal failure?

scientific article published on 01 January 1998

Career structure for non-medical scientists

scientific article published on 01 August 1978

Careers for researchers

journal article; published in Nature

Carrier erythrocyte entrapped adenosine deaminase therapy in adenosine deaminase deficiency

scientific article published on 01 January 2000

Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency

scientific article published on April 1987

Chronic hemolytic anemia and accumulation of pyrimidine nucleotide metabolites

scientific article published on 11 November 2014

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

article

Complete deficiency of adenine phosphoribosyltransferase. Report of a family

scientific article published on 01 July 1977

Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child ⬇️

scientific article published on January 1, 1979

Complete deficiency of adenine phosphoribosyltransferase: report of a family

scientific article published on January 1, 1977

Congenital Chloride Losing Enteropathy Associated with Tophaceous Gouty Arthritis ⬇️

scientific article published on January 1, 1991

Correlations between purine levels, clinical and immunological status in ADA deficiency

scientific article published on 01 January 1986

Dedication to Francoise Roch-Ramel

scientific article published in October 2004

Demonstration of a combined deficiency of xanthine oxidase and aldehyde oxidase in xanthinuric patients not forming oxipurinol

scientific article

Deoxy GTP accumulates in thymocytes, but not in T or B lymphocytes in simulated PNP deficiency

scientific article published on 01 January 1989

Deoxyadenosine metabolism in the erythrocytes of children with severe, combined immunodeficiency

scientific article published on 01 December 1981

Depressed adenosine and total purine catabolite production in the postischemic rat heart

scientific article published on 01 December 1993

Determination of nicotinamide phosphoribosyltransferase activity in human erythrocytes: high-performance liquid chromatography-linked method

scientific article published on September 1, 1992

Diagnosis and Treatment of Inborn Errors of Purine and Pyrimidine Metabolism: An Overview ⬇️

scientific article published on January 1, 1994

Diagnosis of adenine phosphoribosyltransferase deficiency as the underlying cause of renal failure in a renal transplant recipient

scientific article (publication date: March 2004)

Diagnosis of molybdenum cofactor deficiency

scientific article published on 01 February 1999

Differential absorption of purine nucleotides, nucleosides and bases

scientific article published on 01 January 1980

Dihydropyrimidinase deficiency presenting in infancy with severe developmental delay

scientific article published in January 1993

Distinct neurological syndrome in two brothers with hyperuricaemia

scientific article published on 01 November 1992

Does Low-Dose Allopurinol, with Azathioprine, Cyclosporin and Prednisolone, Improve Renal Transplant Immunosuppression? ⬇️

scientific article published on 01 January 1994

Does allopurinol affect the progression of familial juvenile gouty nephropathy?

scientific article published on 01 January 1991

EHNA is a poor inhibitor of deoxyadenosine catabolism in cultured human lymphocytes

scientific article published on 01 March 1985

Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease

scientific article published in September 2002

Effect of Cladribine, Fludarabine, and 5-AZA-Deoxycytidine on S-Adenosylmethionine (SAM) and Nucleotides Pools in Stimulated Human Lymphocytes ⬇️

scientific article published on 01 January 1998

Effect of galactosamine on adenine and uracil nucleotide levels in isolated hepatocytes of young and old rats

scientific article published on 01 January 1994

Effect of methotrexate on blood purine and pyrimidine levels in patients with rheumatoid arthritis

scientific article

Effect of red cell transfusions, thymic hormone and deoxycytidine in severe combined immunodeficiency due to adenosine deaminase deficiency

scientific article published on 01 November 1982

Effects of Allopurinol and Oxonic Acid on Pyrimidine Metabolism in the Pig ⬇️

scientific article published on 01 January 1974

Effects of Cladribine, Fludarabine and 5-aza-deoxycytidine on s-adenosylmethionine (SAM) and nucleotides pools in stimulated human lymphocytes

scholarly article

Effects of adenosine analogues on ATP concentrations in human erythrocytes. Further evidence for a route independent of adenosine kinase

scientific article published on 01 October 1991

Effects of novel anti-viral adenosine analogues on the activity of S-adenosylhomocysteine hydrolase from human liver

scientific article

Efficacy of Allopurinol in Ameliorating the Progressive Renal Disease in Familial Juvenile Hyperuricaemic Nephropathy (FJHN) ⬇️

scientific article published on 01 January 1998

Elevated erythrocyte CDP-choline levels associated with beta-thalassaemia in patients with transfusion independent anaemia

scientific article published in October 2004

Enzymes of nucleotide biosynthesis: differences between intact and lysed cells as well as between species and tissues can be important

scientific article published on November 1995

Erythrocyte CDP-choline accumulation in haemolytic anaemia and renal failure (RF)

scientific article published on 01 January 1998

Erythrocyte GTP depletion in PNP deficiency presenting with haemolytic anaemia and hypouricaemia

scientific article published on 01 January 1986

Erythrocyte nucleotide stability and plasma hypoxanthine concentrations: improved ATP stability with short-term storage at room temperature

scientific article published on 01 November 1990

Evaluation of MK-870: a new potassium-sparing diuretic.

scientific article published in January 1967

Evaluation of adenine concentration in plasma of patients with renal failure using improved ultrafiltration technique

scientific article published on 01 January 1998

Evidence of a new syndrome involving hereditary uric acid over-production, neurological complications and deafness

scientific article published on 01 January 1984

Exogenous adenosine, supplied transiently during reperfusion, ameliorates depressed endogenous adenosine production in the post-ischemic rat heart

scientific article published on 01 January 1997

Experimental crystal nephropathy (one year study in the pig)

scientific article published on December 1, 1975

Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency

scientific article published on 01 January 1984

Familial Juvenile Hyperuricaemic Nephropathy in Adolescents ⬇️

scientific article published on 01 January 1994

Familial gout and renal failure ⬇️

scientific article published on September 1, 1981

Familial gout and renal failure in young women

scientific article published on 01 October 1980

Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease

scientific article published on 01 June 1991

Familial juvenile hyperuricaemic nephropathy

scientific article published in February 2004

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes

article

Familial juvenile hyperuricaemic nephropathy is not such a rare genetic metabolic purine disease in Britain

scientific article published in January 2006

Familial renal disease or familial juvenile hyperuricaemic nephropathy? ⬇️

scientific article published on 01 July 1997

Fast and slow methylators: do racial differences influence risk of allograft rejection?

scientific article published on 01 June 1993

First trimester diagnosis of adenosine deaminase deficiency

scientific article published in October 1987

Formation and degradation of deoxyadenosine nucleotides in inherited adenosine deaminase deficiency

scientific article published on May 1982

Further evidence for a 'new' purine defect, inosine triphosphate (ITP) pyrophosphohydrolase deficiency

scientific article published in January 1989

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).

scientific article published in October 2004

GTP depletion and other erythrocyte abnormalities in inherited PNP deficiency

scientific article published on 01 March 1982

Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency

scientific article (publication date: June 2001)

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.

scientific article

Genetic mechanism(s) responsible for a deficiency of adenine phosphoribosyltransferase in man

scientific article published on 01 January 1984

Gout and Crystal-Related Nephropathy ⬇️

scientific article published on January 1, 1979

Gout and uric acid nephropathy: some new aspects in diagnosis and treatment

scientific article published on 01 December 1983

Gout resistant to allopurinol: poor compliance or non-response.

scientific article

Gout with apparent resistance to allopurinol

scientific article published in January 1983

Gout, uric acid and purine metabolism in paediatric nephrology

scientific article

HPLC assay of uridine monophosphate synthase (UMPS) in chorionic villus samples (CVS) and erythrocytes (RBC)

scientific article published on 01 January 1991

HPLC determination of oxidized and reduced pyridine coenzymes in human erythrocytes

scientific article published on 01 October 1993

HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder

scientific article published in July 2005

HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome

scientific journal article

Hereditary hyperuricemia and renal disease

scientific article

Hereditary orotic aciduria: further biochemistry

scientific article published on 01 January 1986

Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil

scientific article published on 01 November 1969

Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency

scientific article

Heterogeneity of symptomatology in two male siblings with thymine uraciluria

scientific article published on 01 January 1995

How Should we Treat Tophaceous Gout in Patients with Allopurinol Hypersensitivity? ⬇️

scientific article published on 01 January 1998

How should we treat tophaceous gout in patients with allopurinolhypersensitivity?

scholarly article

Human B lymphocytes and thymocytes but not peripheral blood mononuclear cells accumulate high dATP levels in conditions simulating ADA deficiency

scientific article published on October 1985

Human adenine phosphoribosyltransferase. Immunochemical quantitation and protein blot analysis of mutant forms of the enzyme

scientific article published on 01 February 1982

Hypertension, renal function and gout

scientific article published on January 1, 1979

Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy

scientific article

Identification of 6,8-dihydroxypurine in the urine of a gouty patient treated with allopurinol

scientific article published on November 1970

Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis

scientific article published on 01 July 1994

Impaired pyrimidine responses to stimulation in T-lymphocytes from asymptomatic aids patients ⬇️

scholarly article

Importance of nicotinamide as an NAD precursor in the human erythrocyte

scientific article published on 01 November 1990

Importance of platelet-free preparations for evaluating lymphocyte nucleotide levels in inherited or acquired immunodeficiency syndromes

scientific article published on December 1983

Importance of ribonucleotide availability to proliferating T-lymphocytes from healthy humans. Disproportionate expansion of pyrimidine pools and contrasting effects of de novo synthesis inhibitors

scientific article published in December 1995

Importance of the human erythrocyte in the diagnosis of inherited purine and pyrimidine disorders

scientific article published in January 1990

Inheritance of adenine phosphoribosyltransferase (APRT) deficiency

scientific article published on 01 January 1980

Inherited disorders of purine and pyrimidine metabolism. State of art. Contribution for diagnosis

scientific article published in January 2004

Inherited phosphoribosylpyrophosphate synthetase superactivity due to aberrant inhibitor and activator responsiveness

scientific article published in January 1986

Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness

scientific article

Inosine formation from hypoxanthine by intact erythrocytes and fibroblasts of an immunodeficient child with purine nucleoside phosphorylase deficiency

scientific article published on 01 January 1984

Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency

scientific article published on 01 May 1990

Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency

scientific article published on 01 October 1996

Leflunomide inhibits pyrimidine de novo synthesis in mitogen-stimulated T-lymphocytes from healthy humans

scientific article

Long-Term Evolution of Type 1 Adenine Phosphoribosyltransferase (APRT) Deficiency ⬇️

scientific article published on 01 January 1991

Low-dose allopurinol plus azathioprine/cyclosporin/prednisolone, a novel immunosuppressive regimen

scientific article

MK 870: a new potassium-sparing diuretic

scientific article published on 01 August 1966

Marked hypouricemia in purine nucleoside phosphorylase deficiency--serendipitous finding on screen

scientific article published on 01 June 1996

Mechanism and treatment of hypertriglyceridaemia in gout ⬇️

scientific article published on February 1, 1979

Mechanisms of deoxyguanosine lymphotoxicity. Human thymocytes, but not peripheral blood lymphocytes accumulate deoxy-GTP in conditions simulating purine nucleoside phosphorylase deficiency

scientific article published on 01 January 1990

Metabolic studies of purine metabolism in the pig during the oral administration of guanine and allopurinol

scientific article published on 01 October 1973

Metabolic studies of thiopurinol in man and the pig

scientific article published on 01 January 1974

Metabolism of 4-pyridone-3-carboxamide-1-beta-D-ribonucleoside triphosphate and its nucleoside precursor in the erythrocytes.

scientific article published in June 2008

Metabolism of deoxynucleosides by lymphocytes in long-term culture deficient in different purine enzymes

scientific article published on March 1984

Metabolism of intravenous adenine in the pig

scientific article published on 01 January 1977

Methotrexate inhibits the first committed step of purine biosynthesis in mitogen-stimulated human T-lymphocytes: a metabolic basis for efficacy in rheumatoid arthritis?

scientific article

Methylthioadenosine phosphorylase activity in human erythrocytes

scientific article published on 01 March 1983

Micropuncture study of tubular transport of urate and PAH in the pig kidney

scientific article published on 01 August 1980

Molecular characterization of a novel mutation in APRT heterozygotes

scientific article published on 01 January 1994

Molybdenum cofactor deficiency – phenotypic variability in a family with a late‐onset variant ⬇️

scientific article published on January 1, 1998

Mycophenolate mofetil treatment following renal transplantation decreases GTP concentrations in mononuclear leucocytes

scientific article

Mycophenolate mofetil, an inhibitor of inosine monophosphate dehydrogenase, causes a paradoxical elevation of GTP in erythrocytes of renal transplant patients

scientific article

Mycophenolic acid-induced GTP depletion also affects ATP and pyrimidine synthesis in mitogen-stimulated primary human T-lymphocytes

scientific article published on 01 March 2000

NAD synthesis by erythrocytes in phosphoribosylpyrophosphate synthetase (PRPPs) superactivity

scientific article published on 01 January 1989

NAD synthesis in human erythrocytes: determination of the activities of some enzymes.

scientific article

NAD synthesis in human erythrocytes: study of adenylyl transferase activities in patients bearing purine enzyme disorders

scientific article published on 01 January 1991

Neurodevelopmental impairment and deranged PRPP and purine nucleotide synthesis in inherited superactivity of PRPP synthetase

scientific article published on 01 January 1989

New perspectives in the diagnosis and treatment of adenosine deaminase (ADA) deficiency

scientific article published on 01 January 1984

Nicotinic acid phosphoribosyltransferase activity in human erythrocytes: studies using a new HPLC method

scientific article published on 01 September 1994

Normal uric acid concentrations in a purine nucleoside phosphorylase (PNP) deficient child presenting with severe chicken pox, possible immunodeficiency and developmental delay.

scientific article published on January 1994

Novel mechanism for the impairment of cell proliferation in HIV-1 infection

scientific article

Nucleotide degradation products in cerebrospinal fluid (CSF) in inherited and acquired pathologies

scientific article published in October 2004

Nucleotide levels and metabolism of adenosine and deoxyadenosine in intact erythrocytes deficient in adenosine deaminase

scientific article published on January 1984

Nucleotide levels in peripheral blood mononuclear cells of immunodeficient children: problems of measurement

scientific article published on 01 January 1984

On the metabolism of allopurinol. Formation of allopurinol-1-riboside in purine nucleoside phosphorylase deficiency

scientific article published on July 1983

Optimised conditions for the routine HPLC separation of nucleotides in cell extracts

scientific article published on 01 January 1989

Origin and characteristics of an unusual pyridine nucleotide accumulating in erythrocytes: positive correlation with degree of renal failure

scientific article published in September 2003

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 ⬇️

scientific article published on 01 March 1991

Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency as the Unsuspected Cause of Renal Disease Spanning Three Generations: A Cautionary Tale ⬇️

scientific article published on January 1, 2002

Plasma Uridine as well as Uric Acid is Elevated Following Fructose Loading ⬇️

scientific article published on 01 January 1998

Polynesian women are also at risk for hyperuricaemia and gout because of a genetic defect in renal urate handling

scientific article published in October 1994

Precocious familial gout

scientific article published in September 1990

Precocious familial gout with reduced fractional urate clearance and normal purine enzymes

scientific article

Preface

Preface to a supplement to Pharmacy World on the 5TH Symposium of the European Society for the Study of Purine & Pyrimidtne Metabolism in Man (ESSPPMM 1995)

Pregnancy in xanthinuria: demonstration of fetal uric acid production?

scientific article published on 01 January 1984

Prenatal diagnosis for severe combined immunodeficiency

scientific article published on 01 January 1983

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

scientific article published on 01 May 1984

Prenatal exclusion of purine nucleoside phosphorylase deficiency

scientific article published on 01 April 1986

Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children ⬇️

scientific article published on 01 June 1998

Problems in diagnosis and treatment of adenine and hypoxanthine-guanine phosphoribosyltransferase deficiency

scientific article published on 01 January 1984

Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure

scientific article published on 01 January 1984

Proceedings: Metabolic studies of thiopurinol in man and pig.

scientific article published on July 1974

Purine Metabolism and Immunodeficiency: Urinary Purine Excretion as a Diagnostic Screening Test in Adenosine Deaminase and Purine Nucleoside Phosphorylase Deficiency ⬇️

scientific article published on May 1, 1978

Purine Metabolism in Adenosine Deaminase Deficiency ⬇️

scientific article published on January 1, 1978

Purine and Pyrimidine Metabolism in Hereditary Oroticaciduria During a 15 Year Follow-Up Study ⬇️

scientific article published on January 1, 1979

Purine and pyrimidine catabolite production in the postischemic rat heart--effect of adenosine supply during reperfusion

scientific article published on 01 January 1994

Purine and pyrimidine excretion in psoriasis: a comparison with healthy controls during allopurinol therapy ⬇️

scientific article published on April 1, 1974

Purine and pyrimidine metabolism in hereditary orotic aciduria: some unexpected effects of allopurinol

scientific article published on 01 August 1980

Purine enzyme defects as a cause of acute renal failure in childhood

scientific article published on 01 October 1989

Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy

scientific article published on 01 January 1977

Purine metabolites in uraemia

scientific article published on 01 January 1987

Purine nucleoside phosphorylase (PNP) deficiency: a therapeutic challenge

scientific article published on 01 January 1984

Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency

scientific article published on 01 January 1981

Pyrimidine pathways in health and disease

scientific article

Pyrimidines and CNS regulation

scientific article published on 01 March 1996

Radioisotope studies of purine metabolism during administration of guanine and allopurinol in the pig ⬇️

scientific article published on October 15, 1973

Raised IMP-dehydrogenase activity in the erythrocytes of a case of purine nucleoside phosphorylase (PNP) deficiency

scientific article published in January 1991

Rapid determination of purine enzyme activity in intact and lysed cells using high-performance liquid chromatography with and without radiolabelled substrates

scientific article published on 01 September 1983

Rapid prenatal diagnosis of adenosine deaminase deficiency and other purine disorders using foetal blood

scientific article published on 01 January 1983

Reciprocal relationship between erythrocyte ATP and deoxy-ATP levels in inherited ADA deficiency

scientific article published on 01 March 1982

Reduced renal excretion of uric acid in the hirsutism-skeletal dysplasia--mental retardation syndrome

scientific article published in June 1994

Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity

scientific article published on 01 February 1990

Renal Urate Hypoexcretion Preceding Renal Disease in a New Kindred with Familial Juvenile Gouty Nephropathy (FJGN) ⬇️

scientific article published on 01 January 1991

Renal Urate Hypoexcretion in Polynesian Women is not as Severe as in United Kingdom (UK) Women with Familial Juvenile Hyperuricaemic Nephropathy (FJHN) ⬇️

scientific article published on 01 January 1994

Renal failure associated with crystal-induced nephropathy and gout in a baby boy.

scientific article published in January 1983

Renal failure due to 2,8-dihydroxyadenine urolithiasis

scientific article published on 01 July 1982

Renal failure in young subjects with familial gout

scientific article published on 01 January 1980

Renal impairment and gout

scientific article

Restriction of a Sindbis virus mutant in BHK cells and relief of the restriction by the addition of adenosine

scientific article published on January 2002

S-adenosylmethionine increases erythrocyte ATP in vitro by a route independent of adenosine kinase

scientific article published in December 1990

SAH-hydrolase activity in haemolysate and intact erythrocytes; the effect of adenosine analogues

scientific article published on 01 January 1994

Screening for Purine and Pyrimidine Disorders Using Dried Urine Spots ⬇️

scientific article published on 01 January 2000

Severe Debilitating Polyarticular Gout and Terminal Renal Failure in an Allopurinol ‘Non-Responder’ ⬇️

scientific article published on 01 January 1998

Severe impairment of nucleotide synthesis through inhibition of mitochondrial respiration

scientific article

Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients

scientific article published on August 2002

Simultaneous separation by high-performance liquid chromatography of carbamoyl aspartate, carbamoyl phosphate and dihydroorotic acid

scientific article published on 01 September 1999

Source and fate of circulating pyrimidines

scientific article published on 01 January 1986

Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency

scientific article published on 01 January 1980

Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning

scientific article

Succinylpurines do not modify glutamate or adenosine effects in the CNS.

scientific article published in January 1998

Succinylpurines induce neuronal damage in the rat brain

scientific article published in January 1998

Superactive UMP Hydrolase: Cause or Consequence of Haemolytic Anaemia? ⬇️

scientific article published on January 1, 1991

Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate

scientific article published on 01 June 1986

Superoxide radicals, immunodeficiency and xanthine oxidase activity: man is not a mouse!

scientific article published on 01 May 1985

Synthesis of genomic and subgenomic RNA in mosquito cells infected with two Sindbis virus nsP4 mutants: influence of intracellular nucleoside triphosphate concentrations

scientific article

T-lymphocytes from AIDS patients are unable to synthesize ribonucleotides de novo in response to mitogenic stimulation. Impaired pyrimidine responses are already evident at early stages of HIV-1 infection

scientific article published on 01 December 1995

The Effect of Acid Loading on Renal Excretion of Uric Acid and Ammonium in Gout ⬇️

scientific article published on January 1, 1977

The Effect of Allopurinol on Oral Purine Absorption and Excretion in the Pig ⬇️

scientific article published on January 1, 1974

The Pig as an Animal Model for Purine Metabolic Studies ⬇️

scientific article published on 01 January 1974

The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk

scientific article published on 01 January 1994

The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency

scientific article published on 01 January 1994

The conversion of 4-hydroxypyrazolo-[3,4-d]pyrimidine (allopurinol) into 4,6-dihydroxypyrazolo[3,4-d]pyrimidine (oxipurinol) in vivo in the absence of xanthine–oxygen oxidoreductase ⬇️

scientific article published on May 1969

The effect of beer ingestion on plasma and urine uric acid in gout and normouricaemic subjects

scientific article published on 01 January 1984

The entrapment of polyethylene glycol-bound adenosine deaminase (Pegademase) in human carrier erythrocytes

scientific article published on 01 August 1996

The excretion of urinary pseudouridine in patients treated with allopurinol and oxipurinol

scientific article published on February 1969

The high performance liquid chromatography of enzyme systems relating to purine and pyrimidine metabolism: an overview

scientific article

The identification of 2,8-dihydroxyadenine, a new component of urinary stones

scientific article published on August 1976

The importance of thiopurine methyltransferase activity for the use of azathioprine in transplant recipients

scientific article published on 01 May 1992

The neuroleptic chlorpromazine inhibits the cationic and stimulates the anionic phospholipid precursor synthesis in human lymphocytes

scientific article published on 01 January 2006

The novel nucleotide 4KNTP, in high concentrations in erythrocytes of renal failure children: a comparison with accumulation of other putative precursors in the plasma

scientific article published on 01 January 2006

The separation and identification of purines and pyrimidines and pyrazolopyrimidines in biological fluids (T).

scientific article published in May 1970

The use and abuse of allopurinol in renal failure, the tumour lysis syndrome and HGPRT deficiency

scientific article published on 01 January 1986

The use of high resolution mass spectrometry to study purine metabolism in pigs ⬇️

scientific article published on November 15, 1973

Thiopurine methyltransferase activity and efficacy of azathioprine immunosuppression in transplant recipients

scientific article published on 01 January 1991

Thiopurinol and purine metabolism. Metabolic and radioisotope studies

scientific article published on November 1974

Thiopurinol: comparative enzyme inhibition and protein binding studies with allopurinol, oxipurinol and 6-mercaptopurine ⬇️

scientific article published on April 1, 1974

Thiopurinol: dose-related effect on urinary oxypurine excretion

scientific article published on 01 January 1977

Tienilic acid in the treatment of gout and hypertension

scientific article published on 01 January 1980

Tienilic acid: a single treatment for hyperuricaemia and hypertension?

scientific article published on August 1980

Two dimensional thin-layer high-voltage electrophoresis and chromatography for the separation of urinary purines, pyrimidines and pyrazolopyrimidines ⬇️

scientific article published on 01 February 1969

Uric acid excretion by the pig kidney ⬇️

scientific article published on June 1, 1976

Uric acid stones in children. Identification and therapy of a newly detected defect of adenine-phosphoribosyltransferase (author's transl)

scientific article published on December 7, 1979

Uric acid, gout and the kidney ⬇️

scientific article published on November 1, 1981

Urinary excretion of purines, pyrimidines and pyrazolopyrimidines in patients treated with allopurinol or oxipurinol

scientific article published on 01 February 1969

Urinary oxalate levels are not affected by dietary purine intake or allopurinol

scientific article published in October 1987

Urinary uracil concentrations are a useful guide to genetic disorders associated with neurological deficits and abnormal pyrimidine metabolism ⬇️

scientific article published on 01 July 1997

Urolithiasis Due to 2,8-Dihydroxyadenine in an Adult ⬇️

scientific article published on December 24, 1981

Use and abuse of allopurinol

scientific article

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

Use of biological fluids for the rapid diagnosis of potentially lethal inherited disorders of human purine and pyrimidine metabolism

scientific article

Use of intact erythrocytes in the diagnosis of inherited purine and pyrimidine disorders

scientific article published on 01 January 1987

Usefulness of intact erythrocyte studies in the diagnosis of inherited purine and pyrimidine defects.

scientific article published in January 1986

Variations in Allopurinol Metabolism by Xanthinuric Subjects ⬇️

scientific article published on 01 July 1975

Variations in allopurinol metabolism by xanthinuric subjects

scientific article

What is the pathogenesis of familial gouty nephropathy?

scientific article published on January 1991

When and how does one search for inborn errors of purine and pyrimidine metabolism?

scientific article published on April 1994

When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications ⬇️

scientific article published on June 1, 1997

dATP accumulation and ATP depletion in platelets in adenosine deaminase deficiency: Significance for the immune response? ⬇️

scientific article published on 01 October 1984

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