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Lista de obras de Lynette Fairbanks

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

A 9-yr evaluation of carrier erythrocyte encapsulated adenosine deaminase (ADA) therapy in a patient with adult-type ADA deficiency.

artículo científico publicado en 2007

A Biochemical Mechanism for the Role of Allopurinol in TPMT Inhibition

artículo científico publicado en 2011

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

artículo científico publicado en 1994

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

ADA Activity and dATP Levels in Erythrocytes after Bone Marrow Transplantation

artículo científico publicado el 1 de enero de 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

Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey

artículo científico publicado en 2016

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 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

artículo científico publicado el 1 de enero de 2000

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

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

Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase).

artículo científico publicado en 2004

Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population

artículo científico publicado en 2004

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

artículo científico publicado el 15 de febrero de 1988

An unusual cause of "pink diaper" in an infant: Answers.

artículo científico publicado en 2015

An unusual cause of pink diapers in an infant: Questions and Answers

artículo científico publicado en 2015

An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2005

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

Beware of the Uric Acid: Severe Azathioprine Myelosuppression in a Patient With Juvenile Idiopathic Arthritis and Hereditary Xanthinuria

artículo científico publicado en 2018

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

Bone marrow gene transfer in three patients with adenosine deaminase deficiency.

artículo científico publicado en 1996

Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism

artículo científico publicado en 1999

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

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

artículo científico publicado en 1986

Cyclosporin therapy in vivo attenuates the response to vasodilators in the isolated perfused kidney of the rabbit

artículo científico publicado en 1989

Demonstration of induction of erythrocyte inosine monophosphate dehydrogenase activity in Ribavirin-treated patients using a high performance liquid chromatography linked method

artículo científico publicado el 14 de julio de 1995

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

artículo científico publicado en 1989

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).

artículo científico publicado en 2002

Determination of Purine Enzyme Activities in Human Erythrocytes by Capillary Electrophoresis

artículo científico publicado el 1 de enero de 1998

Determination of purine nucleoside phosphorylase activity in human erythrocytes by capillary electrophoresis

artículo científico publicado el 26 de septiembre de 1997

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

artículo científico publicado en 2004

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

artículo científico publicado en 2002

Endothelin and cyclosporin nephrotoxicity

scientific article published on 01 December 1988

Endothelin induces an increase in renal vascular resistance and a fall in glomerular filtration rate in the rabbit isolated perfused kidney

artículo científico publicado en 1989

Endothelin‐1 in the rabbit: interactions with cyclo‐oxygenase and NO‐synthase products

artículo científico publicado el 1 de marzo de 1993

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial

scientific article published on 24 July 2019

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

artículo científico publicado en 1986

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

scientific article published on 01 January 1984

Familial juvenile hyperuricaemic nephropathy

artículo científico publicado en 2004

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

artículo científico publicado en 2006

First trimester diagnosis of adenosine deaminase deficiency

artículo científico publicado en 1987

From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis

artículo científico publicado en 2016

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

artículo científico publicado en 1989

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency.

artículo científico publicado en 2002

Genetic determinants of the pre- and post-azathioprine therapy thiopurine methyltransferase activity phenotype

artículo científico publicado en 2004

Genetic determinants of the thiopurine methyltransferase intermediate activity phenotype in British Asians and Caucasians

artículo científico publicado en 2003

Genetic variation in the MTHFR gene influences thiopurine methyltransferase activity

artículo científico publicado en 2005

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

artículo científico publicado en 1991

HPRT Deficiency: Identification of Twenty-Four Novel Variants Including an Unusual Deep Intronic Mutation

artículo científico publicado el 1 de diciembre de 2011

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

Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction

artículo científico publicado en 2011

Hereditary orotic aciduria: further biochemistry

artículo científico publicado en 1986

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

artículo científico publicado en 1987

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 Mesangial Cell-Derived Interleukin 8 and Interleukin 6: Modulation by an Interleukin 1 Receptor Antagonist

artículo científico publicado el 1 de enero de 1991

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

artículo científico publicado en 1997

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

In vitro and in vivo studies with human carrier erythrocytes loaded with polyethylene glycol-conjugated and native adenosine deaminase

artículo científico publicado en 2000

Influence of xanthine oxidase on thiopurine metabolism in Crohn's disease

artículo científico publicado en 2008

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

artículo científico publicado en 1984

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

artículo científico publicado en 1998

Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype

artículo científico publicado en 2010

Mechanism of allopurinol induced TPMT inhibition

artículo científico publicado en 2013

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

Metabolite and thymocyte development defects in ADA-SCID mice receiving enzyme replacement therapy

artículo científico publicado en 2021

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

Modern diagnostic approach to hereditary xanthinuria.

artículo científico publicado en 2014

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

artículo científico publicado el 1 de enero de 1998

Mutation in the ITPA gene predicts intolerance to azathioprine

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

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 ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2)

scientific article published on 28 March 2019

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

artículo científico publicado en 2004

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

artículo científico publicado el 1 de enero de 2002

Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity

artículo científico publicado en 2013

Preclinical demonstration of lentiviral vector-mediated correction of immunological and metabolic abnormalities in models of adenosine deaminase deficiency

artículo científico publicado en 2013

Preclinical toxicity evaluation of erythrocyte-encapsulated thymidine phosphorylase in BALB/c mice and beagle dogs: an enzyme-replacement therapy for mitochondrial neurogastrointestinal encephalomyopathy

artículo científico publicado en 2012

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)

Prenatal exclusion of purine nucleoside phosphorylase deficiency

scientific article published on 01 April 1986

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

artículo científico publicado en 1984

Purine Nucleoside Phosphorylase Deficiency: A Mutation Update

artículo científico publicado el 1 de diciembre de 2011

Purine metabolites in uraemia

artículo científico publicado en 1987

Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India

artículo científico publicado el 8 de diciembre de 2011

Pyrimidine pathways in health and disease

artículo científico publicado en 2005

Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy

scientific article published on 13 March 2020

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

Refractory gout - does it exist?

scientific article published on 30 April 2020

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

artículo científico publicado en 1983

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy

artículo científico publicado en 2019

Screening for Purine and Pyrimidine Disorders Using Dried Urine Spots

artículo científico publicado el 1 de enero de 2000

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

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

artículo científico publicado en 2001

Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning

artículo científico publicado en 2006

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 allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease

artículo científico publicado en 1999

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 contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients

artículo científico publicado en 2009

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

artículo científico publicado en 1996

The mouse immune response to carrier erythrocyte entrapped antigens.

artículo científico publicado en 2006

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 β-globin locus control region in combination with the EF1α short promoter allows enhanced lentiviral vector-mediated erythroid gene expression with conserved multilineage activity

artículo científico publicado en 2012

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

Urine concentrations of xanthine, hypoxanthine and uric acid in UK Cavalier King Charles spaniels

artículo científico publicado en 2013

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

Validation of a HPLC method for the measurement of erythrocyte encapsulated thymidine phosphorylase (EE-TP) activity.

artículo científico publicado en 2012

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

Xanthine urolithiasis in a Cavalier King Charles spaniel

scientific article published on 08 July 2011

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