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Pleural fluid adenosine deaminase (pfADA) in the diagnosis of tuberculous effusions in a low incidence population

PloS one, 2015-02, Vol.10 (2), p.e0113047-e0113047

2015

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Successful Reconstitution of Immunity in ADA-SCID by Stem Cell Gene Therapy Following Cessation of PEG-ADA and Use of Mild Preconditioning

Molecular therapy, 2006-10, Vol.14 (4), p.505-513

2006

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

Journal of clinical medicine, 2019-07, Vol.8 (8), p.1096

2019

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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

Journal of clinical medicine, 2020-03, Vol.9 (3), p.788

2020

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

Scientific reports, 2021-12, Vol.11 (1), p.23221-17, Article 23221

2021

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Pyrimidine pathways in health and disease

Trends in molecular medicine, 2005-09, Vol.11 (9), p.430-437

2005

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Preclinical Demonstration of Lentiviral Vector-mediated Correction of Immunological and Metabolic Abnormalities in Models of Adenosine Deaminase Deficiency

Molecular therapy, 2014-03, Vol.22 (3), p.607-622

2014

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

Journal of clinical medicine, 2019-04, Vol.8 (4), p.457

2019

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Modern diagnostic approach to hereditary xanthinuria

Urolithiasis, 2015-02, Vol.43 (1), p.61-67

2015

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

Toxicological sciences, 2013-01, Vol.131 (1), p.311-324

2013

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Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

Molecular genetics and metabolism reports, 2021-03, Vol.26, p.100709, Article 100709

2021

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

Journal of pharmaceutical and biomedical analysis, 2013-03, Vol.76, p.8-12

2013

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Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency

Human genetics, 2002-10, Vol.111 (4-5), p.360-367

2002

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A population study of Lesch–Nyhan disease in the UK

Developmental medicine and child neurology, 2011-01, Vol.53 (1), p.34-39

2011

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IL‐12 and IL‐4 activate a CD39‐dependent intrinsic peripheral tolerance mechanism in CD8+ T cells

European journal of immunology, 2016-06, Vol.46 (6), p.1438-1448

2016

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Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

BMC research notes, 2017-09, Vol.10 (1), p.454-454, Article 454

2017

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Refractory gout - does it exist?

Nucleosides, nucleotides & nucleic acids, 2020-12, Vol.39 (10-12), p.1410-1423

2020

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

European journal of haematology, 2007-10, Vol.79 (4), p.338-348

2007

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Endothelial cell cytoprotection induced in vitro by allo‐ or xenoreactive antibodies is mediated by signaling through adenosine A2 receptors

European journal of immunology, 2003-11, Vol.33 (11), p.3127-3135

2003

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Genetic variation in the MTHFR gene influences thiopurine methyltransferase activity

Clinical chemistry (Baltimore, Md.), 2005-12, Vol.51 (12), p.2371-2374

2005

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Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients

Journal of inborn errors of metabolism and screening, 2021, Vol.9

2021

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The mouse immune response to carrier erythrocyte entrapped antigens

Vaccine, 2006-08, Vol.24 (35), p.6129-6139

2006

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Treating gout - can hypouricemia produced by moderate doses of combined oral treatment give early treatment success? Preliminary observations

Nucleosides, nucleotides & nucleic acids, 2022, Vol.41 (12), p.1267-1278

2022

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Leflunomide Inhibits Pyrimidine de Novo Synthesis in Mitogen-stimulated T-lymphocytes from Healthy Humans

The Journal of biological chemistry, 1998-08, Vol.273 (34), p.21682-21691

1998

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Pleural fluid adenosine deaminase (pfADA) in the diagnosis of tuberculous effusions in a low incidence population

Successful Reconstitution of Immunity in ADA-SCID by Stem Cell Gene Therapy Following Cessation of PEG-ADA and Use of Mild Preconditioning

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

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

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

Pyrimidine pathways in health and disease

Preclinical Demonstration of Lentiviral Vector-mediated Correction of Immunological and Metabolic Abnormalities in Models of Adenosine Deaminase Deficiency

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

Modern diagnostic approach to hereditary xanthinuria

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

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

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

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency

A population study of Lesch–Nyhan disease in the UK

IL‐12 and IL‐4 activate a CD39‐dependent intrinsic peripheral tolerance mechanism in CD8+ T cells

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

Refractory gout - does it exist?

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

Endothelial cell cytoprotection induced in vitro by allo‐ or xenoreactive antibodies is mediated by signaling through adenosine A2 receptors

Genetic variation in the MTHFR gene influences thiopurine methyltransferase activity

Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients

The mouse immune response to carrier erythrocyte entrapped antigens

Treating gout - can hypouricemia produced by moderate doses of combined oral treatment give early treatment success? Preliminary observations

Leflunomide Inhibits Pyrimidine de Novo Synthesis in Mitogen-stimulated T-lymphocytes from Healthy Humans

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