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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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Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency

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

2002

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

Pediatrics (Evanston), 2002-01, Vol.109 (1), p.E17-e17

2002

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

The Journal of biological chemistry, 1995-12, Vol.270 (50), p.29682-29689

1995

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

Kidney international, 2003-05, Vol.63 (5), p.1645-1651

2003

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Diagnosis of molybdenum cofactor deficiency

The Lancet (British edition), 1999-02, Vol.353 (9153), p.675-675

1999

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Hereditary hyperuricemia and renal disease

Seminars in nephrology, 2005, Vol.25 (1), p.9-18

2005

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

Nephrology, dialysis, transplantation, 2004-03, Vol.19 (3), p.736-738

2004

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

Clinica chimica acta, 1988-02, Vol.171 (2), p.197-210

1988

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

Biochemical journal, 1999-08, Vol.342 ( Pt 1) (1), p.143-152

1999

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

QJM : An International Journal of Medicine, 2002-09, Vol.95 (9), p.597-607

2002

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

Blood, 2001-06, Vol.97 (11), p.3327-3332

2001

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

Clinical science (1979), 2004-07, Vol.107 (1), p.63-68

2004

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Severe Impairment of Nucleotide Synthesis Through Inhibition of Mitochondrial Respiration

Nucleosides, nucleotides & nucleic acids, 2004-10, Vol.23 (8-9), p.1275-1279

2004

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Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients

Biochemical journal, 2002-08, Vol.366 (Pt 1), p.265-272

2002

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

Clinical science (1979), 2004-07, Vol.107 (1), p.69-74

2004

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

Kidney international, 2005-09, Vol.68 (3), p.938-947

2005

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

Rheumatology (Oxford, England), 1999-10, Vol.38 (10), p.997-1002

1999

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

Clinica chimica acta, 2003-09, Vol.335 (1), p.117-129

2003

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

Journal of virology, 2004-09, Vol.78 (18), p.9645-9651

2004

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Dedication to Francoise Roch-Ramel

Nucleosides, nucleotides & nucleic acids, 2004-10, Vol.23 (8-9), p.1081-1082

Simmonds, H. A.

2004

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Adenine Phosphoribosyltransferase-Deficient Mice Develop 2,8-Dihydroxyadenine Nephrolithiasis

Proceedings of the National Academy of Sciences - PNAS, 1996-05, Vol.93 (11), p.5307-5312

1996

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

Molecular and cellular biochemistry, 2002-02, Vol.231 (1-2), p.83-88

2002

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

Clinical and experimental medicine, 2007-12, Vol.7 (4), p.135-141

2007

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Pyrimidine pathways in health and disease

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency

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

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

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

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

Diagnosis of molybdenum cofactor deficiency

Hereditary hyperuricemia and renal disease

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

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

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

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

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

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

Severe Impairment of Nucleotide Synthesis Through Inhibition of Mitochondrial Respiration

Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients

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

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

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

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

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

Dedication to Francoise Roch-Ramel

Adenine Phosphoribosyltransferase-Deficient Mice Develop 2,8-Dihydroxyadenine Nephrolithiasis

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

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

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