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molybdenum and Purine Pyrimidine Metabolism, Inborn Errors

molybdenum has been researched along with Purine Pyrimidine Metabolism, Inborn Errors in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19902 (28.57)18.7374
1990's4 (57.14)18.2507
2000's1 (14.29)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
George, GN; Hodson, R; Leimkuhler, S; Rajagopalan, KV1
Charpentier, C; Frezal, J; Kesseler, A; Munnich, A; Ogier, H; Perignon, JL; Saudubray, JM1
Johnson, JL; Mize, C; Rajagopalan, KV1
Mandel, H; Stroomer, LE; van Cruchten, AG; van Gennip, AH1
Amaya, Y; Hosoya, T; Ichida, K; Kamatani, N; Nishino, T; Sakai, O1
Fairbanks, L; Hughes, EF; Robinson, RO; Simmonds, HA1
Monnet, JP; Nogues, C; Ogier, H; Roth, A; Saudubray, JM1

Other Studies

7 other study(ies) available for molybdenum and Purine Pyrimidine Metabolism, Inborn Errors

ArticleYear
Recombinant Rhodobacter capsulatus xanthine dehydrogenase, a useful model system for the characterization of protein variants leading to xanthinuria I in humans.
    The Journal of biological chemistry, 2003, Jun-06, Volume: 278, Issue:23

    Topics: Absorptiometry, Photon; Animals; Bacterial Proteins; Cattle; Dimerization; Electron Spin Resonance Spectroscopy; Escherichia coli; Gene Expression Regulation, Bacterial; Gene Expression Regulation, Enzymologic; Humans; Iron; Ligands; Milk; Molybdenum; Mutagenesis, Site-Directed; Purine-Pyrimidine Metabolism, Inborn Errors; Recombinant Proteins; Rhodobacter capsulatus; Substrate Specificity; Sulfur; Tungsten; Xanthine Dehydrogenase

2003
[Double deficiency of sulfite and xanthine oxidase causing encephalopathy and due to a hereditary anomaly in the metabolism of molybdenum].
    Annales de medecine interne, 1982, Volume: 133, Issue:8

    Topics: Brain Diseases, Metabolic; Coenzymes; Consanguinity; Female; Humans; Infant; Metalloproteins; Molybdenum; Molybdenum Cofactors; Oxidoreductases; Oxidoreductases Acting on Sulfur Group Donors; Pteridines; Purine-Pyrimidine Metabolism, Inborn Errors; Xanthine Oxidase

1982
Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency.
    Journal of inherited metabolic disease, 1995, Volume: 18, Issue:3

    Topics: Adult; Coenzymes; Humans; Male; Metalloproteins; Molybdenum; Molybdenum Cofactors; Pteridines; Purine-Pyrimidine Metabolism, Inborn Errors; Purines; Radiography; Spine; Sulfur

1995
Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency.
    Advances in experimental medicine and biology, 1994, Volume: 370

    Topics: Allopurinol; Coenzymes; Female; Humans; Male; Metabolism, Inborn Errors; Metalloproteins; Molybdenum; Molybdenum Cofactors; Pteridines; Purine-Pyrimidine Metabolism, Inborn Errors; Xanthine; Xanthine Dehydrogenase; Xanthines

1994
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.
    The Journal of clinical investigation, 1997, May-15, Volume: 99, Issue:10

    Topics: Adult; Aged; Codon; Coenzymes; DNA Primers; Duodenum; Humans; Intestinal Mucosa; Male; Metalloproteins; Molybdenum; Molybdenum Cofactors; Point Mutation; Polymerase Chain Reaction; Pteridines; Purine-Pyrimidine Metabolism, Inborn Errors; RNA, Messenger; Sequence Deletion; Xanthine; Xanthine Dehydrogenase; Xanthines

1997
Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant.
    Developmental medicine and child neurology, 1998, Volume: 40, Issue:1

    Topics: Age of Onset; Behavioral Symptoms; Brain; Child; Diagnosis, Differential; Family Relations; Female; Humans; Hypoxanthine; Infant; Lens Subluxation; Magnetic Resonance Imaging; Molybdenum; Oxidoreductases Acting on Sulfur Group Donors; Phenotype; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Xanthine

1998
Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor.
    Virchows Archiv. A, Pathological anatomy and histopathology, 1985, Volume: 405, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Brain; Child, Preschool; Coenzymes; Female; Humans; Liver; Metalloproteins; Microcephaly; Molybdenum; Molybdenum Cofactors; Oxidoreductases; Oxidoreductases Acting on Sulfur Group Donors; Pteridines; Purine-Pyrimidine Metabolism, Inborn Errors; Sulfates; Syndrome; Xanthine Oxidase; Xanthines

1985