Per ulteriori informazioni selezionare i riferimenti di interesse.
Successful HLA-identical bone marrow transplantation in a patient with PNPdeficiency using busulfan and fludarabine for conditioning
BONE MARROW TRANSPLANTATION
Genetic basis of hemolytic anemia caused by pyrimidine 5 ' nucleotidase deficiency
BLOOD
Mycophenolic acid-induced GTP depletion also affects ATP and pyrimidine synthesis in mitogen-stimulated primary human T-lymphocytes
TRANSPLANTATION
Effect of methotrexate on blood purine and pyrimidine levels in patients with rheumatoid arthritis
RHEUMATOLOGY
Simultaneous separation by high-performance liquid chromatography of carbamoyl aspartate, carbamoyl phosphate and dihydroorotic acid
JOURNAL OF CHROMATOGRAPHY B
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency
MOLECULAR GENETICS AND METABOLISM
Adenoviruses encoding HPRT correct biochemical abnormalities of HPRT-deficient cells and allow their survival in negative selection medium
METABOLIC BRAIN DISEASE
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
Novel mechanism for the impairment of cell proliferation in HIV-I infection
IMMUNOLOGY TODAY
Diagnosis of molybdenum cofactor deficiency
LANCET
PRESYMPTOMATIC DETECTION OF FAMILIAL JUVENILE HYPERURICAEMIC NEPHROPATHY IN CHILDREN
Pediatric nephrology
LEFLUNOMIDE INHIBITS PYRIMIDINE DE-NOVO SYNTHESIS IN MITOGEN-STIMULATED T-LYMPHOCYTES FROM HEALTHY HUMANS
The Journal of biological chemistry
MOLYBDENUM COFACTOR DEFICIENCY-PHENOTYPIC VARIABILITY IN A FAMILY WITH A LATE-ONSET VARIANT
Developmental Medicine and Child Neurology
THE PRIMARY-MODE OF ACTION OF LEFLUNOMIDE IN RHEUMATOID-ARTHRITIS IS INHIBITION OF DE-NOVO PYRIMIDINE SYNTHESIS
Arthritis and rheumatism
ACCUMULATION OF CDP-ETHANOLAMINE, CDP-CHOLINE AND UTP IN THE ERYTHROCYTE OF AN ISOLATED CASE OF CHRONIC HEMOLYSIS
The FASEB journal
URINARY URACIL CONCENTRATIONS ARE A USEFUL GUIDE TO GENETIC-DISORDERSASSOCIATED WITH NEUROLOGICAL DEFICITS AND ABNORMAL PYRIMIDINE METABOLISM
Journal of inherited metabolic disease
FAMILIAL RENAL-DISEASE OR FAMILIAL JUVENILE HYPERURICAEMIC NEPHROPATHY
Journal of inherited metabolic disease
WHEN TO INVESTIGATE FOR PURINE AND PYRIMIDINE DISORDERS - INTRODUCTION AND REVIEW OF CLINICAL AND LABORATORY INDICATIONS
Journal of inherited metabolic disease
EXOGENOUS ADENOSINE, SUPPLIED TRANSIENTLY DURING REPERFUSION, AMELIORATES DEPRESSED ENDOGENOUS ADENOSINE PRODUCTION IN THE POSTISCHEMIC RAT-HEART
Journal of Molecular and Cellular Cardiology
ACCUMULATION OF CDP-ETHANOLAMINE, CDP-CHOLINE AND UTP IN THE ERYTHROCYTE OF AN ISOLATED CASE OF CHRONIC HEMOLYSIS
Molecular biology of the cell
HPRT-APRT-DEFICIENT MICE ARE NOT A MODEL FOR LESCH-NYHAN SYNDROME
Human molecular genetics
THE ENTRAPMENT OF POLYETHYLENE GLYCOL-BOUND ADENOSINE-DEAMINASE (PEGADEMASE) IN HUMAN CARRIER ERYTHROCYTES
Biochemical Society transactions
ADENINE PHOSPHORIBOSYLTRANSFERASE-DEFICIENT MICE DEVELOP 2,8-DIHYDROXYADENINE NEPHROLITHIASIS
Proceedings of the National Academy of Sciences of the United Statesof America
T-LYMPHOCYTES FROM AIDS PATIENTS ARE UNABLE TO SYNTHESIZE RIBONUCLEOTIDES DE-NOVO IN RESPONSE TO MITOGENIC STIMULATION
Immunology
MARKED HYPOURICEMIA IN PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY - SERENDIPITOUS FINDING ON SCREENING
Clinical chemistry
INTERACTION OF HEMOGLOBIN-E AND PYRIMIDINE 5'-NUCLEOTIDASE DEFICIENCY
Blood
PYRIMIDINES AND CNS REGULATION
Trends in pharmacological sciences
ACUTE-RENAL-FAILURE DUE TO XANTHINE STONES
Pediatric nephrology
ENZYMES OF NUCLEOTIDE BIOSYNTHESIS - DIFFERENCES BETWEEN INTACT AND LYSED CELLS AS WELL AS BETWEEN SPECIES AND TISSUES CAN BE IMPORTANT
Biochemical Society transactions
HETEROGENEITY OF SYMPTOMATOLOGY IN 2 MALE SIBLINGS WITH THYMINE URACILURIA
Journal of inherited metabolic disease
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
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
The Journal of biological chemistry
IDENTIFICATION OF A 7-BASEPAIR DELETION IN THE ADENINE PHOSPHORIBOSYL-TRANSFERASE GENE AS A CAUSE OF 2,8-DIHYDROXYADENINE UROLITHIASIS
The Clinical investigator
WHEN AND HOW DOES ONE SEARCH FOR INBORN-ERRORS OF AND PYRIMIDINE METABOLISM
Pharmacy world & science
POLYNESIAN WOMEN ARE ALSO AT RISK FOR HYPERURICEMIA AND GOUT BECAUSE OF A GENETIC-DEFECT IN RENAL URATE HANDLING
British journal of rheumatology
REDUCED RENAL EXCRETION OF URIC-ACID IN THE HIRSUTISM-SKELETAL DYSPLASIA-MENTAL RETARDATION SYNDROME
American journal of medical genetics
THE ALLOPURINOL LOADING TEST IN DETECTING OBLIGATE HETEROZYGOTES FOR OCT DEFICIENCY
Journal of inherited metabolic disease
ADENOSINE-DEAMINASE DEFICIENCY WITH ALTERED BIOCHEMICAL PARAMETERS IN2 SISTERS WITH LATE-ONSET IMMUNODEFICIENCY
Journal of inherited metabolic disease
ADULT-ONSET IMMUNODEFICIENCY CAUSED BY INHERITED ADENOSINE-DEAMINASE DEFICIENCY
The Journal of immunology
NICOTINIC-ACID PHOSPHORIBOSYLTRANSFERASE ACTIVITY IN HUMAN ERYTHROCYTES - STUDIES USING A NEW HPLC METHOD
Clinica chimica acta
THE ALLOPURINOL LOADING TEST FOR IDENTIFICATION OF CARRIERS FOR ORNITHINE CARBAMOYL TRANSFERASE DEFICIENCY - STUDIES IN A HEALTHY CONTROL POPULATION AND FEMALES AT RISK
Clinica chimica acta
EFFECTS OF NOVEL ANTIVIRAL ADENOSINE-ANALOGS ON THE ACTIVITY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE FROM HUMAN LIVER
Biochemical pharmacology
DEPRESSED ADENOSINE AND TOTAL PURINE CATABOLITE PRODUCTION IN THE POSTISCHEMIC RAT-HEART
Cardioscience
FAMILIAL PRECOCIOUS GOUT IN MONOZYGOTIC TWINS
British journal of rheumatology
DIHYDROPYRIMIDINASE DEFICIENCY PRESENTING IN INFANCY WITH SEVERE DEVELOPMENTAL DELAY
Journal of inherited metabolic disease
LOW-DOSE ALLOPURINOL PLUS AZATHIOPRINE CYCLOSPORINE PREDNISOLONE, A NOVEL IMMUNOSUPPRESSIVE REGIMEN
Lancet
ADULT PRESENTATION OF ADENOSINE-DEAMINASE DEFICIENCY
Lancet
FAST AND SLOW METHYLATORS - DO RACIAL-DIFFERENCES INFLUENCE RISK OF ALLOGRAFT-REJECTION
Quarterly Journal of Medicine
HPLC DETERMINATION OF OXIDIZED AND REDUCED PYRIDINE COENZYMES IN HUMAN ERYTHROCYTES
Clinica chimica acta