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Lista de obras de Anne Simmonds

2,8-Dihydroxyadenine lithiasis

artículo científico publicado en 1986

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

artículo científico publicado en 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?

artículo científico publicado el 1 de noviembre de 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?

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado el 1 de enero de 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

artículo científico publicado en 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

artículo científico publicado en 1991

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

artículo científico

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.

artículo científico publicado en 2004

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

artículo científico publicado en 1994

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

artículo científico publicado en 2006

A novel route of ATP synthesis

artículo científico publicado el 28 de mayo de 1992

A population study of Lesch-Nyhan disease in the UK

artículo científico publicado el 24 de septiembre de 2010

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

artículo científico publicado en 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

artículo científico publicado en 2000

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

artículo científico publicado en 1989

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

artículo científico publicado el 1 de octubre de 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

artículo científico publicado en 2002

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

artículo científico publicado en 1973

Acute renal failure due to xanthine stones

artículo científico publicado el 1 de agosto de 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.

artículo científico publicado en 1978

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

artículo científico publicado el 1 de enero de 1994

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

artículo científico publicado en 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 biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium

artículo científico publicado en 1999

Adenoviruses encoding HPRT correct the biochemical abnormalities fully only in HPRT-deficient human cell lines: importance of species differences.

artículo científico publicado en 2000

Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical features

artículo científico publicado en 1999

Adenylosuccinate lyase deficiency--first British case

artículo científico publicado en 2004

Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency

scientific article published on 01 September 1994

Adult presentation of adenosine deaminase deficiency

artículo científico publicado en 1993

Allopurinol in renal failure and the tumour lysis syndrome

artículo científico publicado en 1986

Allopurinol in the treatment of uraemic patients with gout

artículo científico publicado en 1967

Allopurinol in treatment of patients with gout and chronic renal failure

artículo científico

Allopurinol kinetics after massive overdosage

artículo científico publicado en 1988

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

artículo científico publicado en 1982

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

artículo científico publicado el 15 de febrero de 1988

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

artículo científico publicado el 1 de enero de 1991

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

artículo científico publicado en 1982

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

artículo científico publicado en 1985

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

artículo científico publicado en 2006

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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 2003

Azapropazone--a treatment for hyperuricaemia and gout?

artículo científico publicado en 1984

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

artículo científico publicado en 1984

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

artículo científico publicado el 1 de enero de 1994

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

artículo científico publicado en 1998

Career structure for non-medical scientists

artículo científico publicado en 1978

Careers for researchers

journal article; published in Nature

Carrier erythrocyte entrapped adenosine deaminase therapy in adenosine deaminase deficiency

artículo científico publicado en 2000

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

artículo científico publicado en 1987

Chronic hemolytic anemia and accumulation of pyrimidine nucleotide metabolites.

artículo científico publicado en 2014

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

article

Complete deficiency of adenine phosphoribosyltransferase. Report of a family

artículo científico publicado en 1977

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

artículo científico publicado el 1 de enero de 1979

Complete deficiency of adenine phosphoribosyltransferase: report of a family

artículo científico publicado el 1 de enero de 1977

Congenital Chloride Losing Enteropathy Associated with Tophaceous Gouty Arthritis

artículo científico publicado el 1 de enero de 1991

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

artículo científico publicado en 1986

Dedication to Francoise Roch-Ramel

artículo científico publicado en 2004

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

artículo científico publicado en 1990

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

artículo científico publicado en 1989

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

artículo científico publicado en 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

artículo científico publicado el 1 de septiembre de 1992

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

artículo científico publicado el 1 de enero de 1994

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

artículo científico publicado en 2004

Diagnosis of molybdenum cofactor deficiency

artículo científico publicado en 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

artículo científico publicado en 1993

Distinct neurological syndrome in two brothers with hyperuricaemia

artículo científico publicado el 7 de noviembre de 1992

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

artículo científico publicado el 1 de enero de 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

artículo científico publicado en 2002

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

artículo científico publicado el 1 de enero de 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

artículo científico publicado en 1999

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

artículo científico publicado en 1982

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

artículo científico publicado el 1 de enero de 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

artículo científico publicado en 1991

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

artículo científico publicado en 1994

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

artículo científico publicado el 1 de enero de 1998

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

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 1986

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

artículo científico publicado en 1990

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

artículo científico publicado en 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

artículo científico publicado en 1997

Experimental crystal nephropathy (one year study in the pig)

artículo científico publicado el 1 de diciembre de 1975

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

artículo científico publicado en 1984

Familial Juvenile Hyperuricaemic Nephropathy in Adolescents

artículo científico publicado el 1 de enero de 1994

Familial gout and renal failure

artículo científico publicado el 1 de septiembre de 1981

Familial gout and renal failure in young women

artículo científico publicado en 1980

Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease

artículo científico publicado en 1991

Familial juvenile hyperuricaemic nephropathy

artículo científico publicado en 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

artículo científico publicado en 2006

Familial renal disease or familial juvenile hyperuricaemic nephropathy?

artículo científico publicado el 1 de julio de 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

artículo científico publicado en 1987

Formation and degradation of deoxyadenosine nucleotides in inherited adenosine deaminase deficiency

artículo científico publicado en 1982

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

artículo científico publicado en 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).

artículo científico publicado en 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

artículo científico publicado en 2001

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.

artículo científico publicado en 2002

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

scientific article published on 01 January 1984

Gout and Crystal-Related Nephropathy

artículo científico publicado el 1 de enero de 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.

artículo científico publicado en 1984

Gout with apparent resistance to allopurinol

artículo científico publicado en 1983

Gout, uric acid and purine metabolism in paediatric nephrology

artículo científico publicado en 1993

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

artículo científico publicado en 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

artículo científico publicado en 2005

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

scientific journal article

Hereditary hyperuricemia and renal disease

artículo científico publicado en 2005

Hereditary orotic aciduria: further biochemistry

artículo científico publicado en 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

artículo científico publicado en 1987

Heterogeneity of symptomatology in two male siblings with thymine uraciluria

artículo científico publicado en 1995

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

artículo científico publicado el 1 de enero de 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

artículo científico publicado en 1985

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

artículo científico publicado en 1982

Hypertension, renal function and gout

artículo científico publicado el 1 de enero de 1979

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

artículo científico publicado en 1983

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

artículo científico publicado en 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

artículo científico publicado en 1997

Importance of nicotinamide as an NAD precursor in the human erythrocyte

artículo científico publicado en 1990

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

artículo científico publicado en 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

artículo científico publicado en 1995

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

artículo científico publicado en 1990

Inheritance of adenine phosphoribosyltransferase (APRT) deficiency

artículo científico publicado en 1980

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

artículo científico publicado en 2004

Inherited phosphoribosylpyrophosphate synthetase superactivity due to aberrant inhibitor and activator responsiveness

artículo científico publicado en 1986

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

artículo científico publicado en 1988

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

artículo científico publicado en 1984

Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency

artículo científico publicado en 1990

Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency

artículo científico publicado en 1996

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

artículo científico publicado en 1998

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

artículo científico publicado el 1 de enero de 1991

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

artículo científico publicado en 1993

MK 870: a new potassium-sparing diuretic

artículo científico publicado en 1966

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

artículo científico publicado en 1996

Mechanism and treatment of hypertriglyceridaemia in gout

artículo científico publicado el 1 de febrero de 1979

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

artículo científico publicado en 1990

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

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 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?

artículo científico publicado en 1999

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

artículo científico publicado en 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

artículo científico publicado el 1 de enero de 1998

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

artículo científico publicado en 2004

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

artículo científico publicado en 2004

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

artículo científico publicado en 2000

NAD synthesis by erythrocytes in phosphoribosylpyrophosphate synthetase (PRPPs) superactivity

artículo científico publicado en 1989

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

artículo científico publicado en 1991

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 1994

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

artículo científico publicado en 1999

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

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado el 1 de marzo de 1991

Partial hypoxanthine-Guanine phosphoribosyltransferase deficiency as the unsuspected cause of renal disease spanning three generations: a cautionary tale

artículo científico publicado en 2002

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

artículo científico publicado el 1 de enero de 1998

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

artículo científico publicado en 1994

Precocious familial gout

artículo científico publicado en 1990

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

artículo científico publicado en 1990

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

artículo científico publicado en 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

artículo científico publicado en 1984

Prenatal exclusion of purine nucleoside phosphorylase deficiency

scientific article published on 01 April 1986

Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children

artículo científico publicado en 1998

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

artículo científico publicado en 1984

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

artículo científico publicado en 1984

Proceedings: Metabolic studies of thiopurinol in man and pig.

artículo científico publicado en 1974

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

artículo científico publicado el 1 de mayo de 1978

Purine Metabolism in Adenosine Deaminase Deficiency

artículo científico publicado el 1 de enero de 1978

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

artículo científico publicado el 1 de enero de 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

artículo científico publicado el 1 de abril de 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

artículo científico publicado en 1977

Purine metabolites in uraemia

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado el 15 de octubre de 1973

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

artículo científico publicado en 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

artículo científico publicado en 1982

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

artículo científico publicado en 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)

artículo científico publicado el 1 de enero de 1991

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

artículo científico publicado el 1 de enero de 1994

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

artículo científico publicado en 1983

Renal failure due to 2,8-dihydroxyadenine urolithiasis

scientific article published on 01 July 1982

Renal failure in young subjects with familial gout

artículo científico publicado en 1980

Renal impairment and gout

artículo científico publicado en 1980

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

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 2000

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

artículo científico publicado el 1 de enero de 1998

Severe impairment of nucleotide synthesis through inhibition of mitochondrial respiration

artículo científico publicado en 2004

Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients

artículo científico publicado en 2002

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

artículo científico publicado en 1999

Source and fate of circulating pyrimidines

artículo científico publicado en 1986

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

artículo científico publicado en 1980

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

artículo científico publicado en 2001

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

artículo científico publicado en 1998

Succinylpurines induce neuronal damage in the rat brain

artículo científico publicado en 1998

Superactive UMP Hydrolase: Cause or Consequence of Haemolytic Anaemia?

artículo científico publicado el 1 de enero de 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

artículo científico publicado en 2008

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

artículo científico publicado en 1995

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

artículo científico publicado el 1 de enero de 1977

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

artículo científico publicado el 1 de enero de 1974

The Pig as an Animal Model for Purine Metabolic Studies

artículo científico publicado el 1 de enero de 1974

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

artículo científico publicado en 1994

The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency

artículo científico publicado en 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

artículo científico publicado en 1969

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

artículo científico publicado en 1984

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

artículo científico publicado en 1996

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

artículo científico publicado en 1969

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

artículo científico publicado en 1990

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

artículo científico publicado en 1976

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado el 15 de noviembre de 1973

Thiopurine methyltransferase activity and efficacy of azathioprine immunosuppression in transplant recipients

artículo científico publicado en 1991

Thiopurinol and purine metabolism. Metabolic and radioisotope studies

artículo científico publicado en 1974

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

artículo científico publicado el 1 de abril de 1974

Thiopurinol: dose-related effect on urinary oxypurine excretion

artículo científico publicado el 1 de enero de 1977

Tienilic acid in the treatment of gout and hypertension

artículo científico publicado en 1980

Tienilic acid: a single treatment for hyperuricaemia and hypertension?

artículo científico publicado en 1980

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

artículo científico

Uric acid excretion by the pig kidney

artículo científico publicado el 1 de junio de 1976

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

artículo científico publicado el 7 de diciembre de 1979

Uric acid, gout and the kidney

artículo científico publicado el 1 de noviembre de 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

artículo científico publicado en 1987

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

artículo científico publicado el 1 de julio de 1997

Urolithiasis Due to 2,8-Dihydroxyadenine in an Adult

artículo científico publicado el 24 de diciembre de 1981

Use and abuse of allopurinol

artículo científico publicado en 1987

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

artículo científico publicado en 1986

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

artículo científico publicado en 1987

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

artículo científico publicado en 1986

Variations in Allopurinol Metabolism by Xanthinuric Subjects

artículo científico publicado el 1 de julio de 1975

Variations in allopurinol metabolism by xanthinuric subjects.

artículo científico publicado en 1974

What is the pathogenesis of familial gouty nephropathy?

artículo científico publicado en 1991

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

artículo científico publicado en 1994

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

artículo científico publicado el 1 de junio de 1997

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

artículo científico publicado el 1 de octubre de 1984