hypoxanthine and Metabolism, Inborn Errors

hypoxanthine has been researched along with Metabolism, Inborn Errors in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19901 (16.67)18.7374
1990's1 (16.67)18.2507
2000's2 (33.33)29.6817
2010's2 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Därr, RW; Därr, WH; Eggermann, T; Lenzner, S1
Fujiwara, Y; Ichida, K; Kawakami, Y; Shinohara, Y1
Niezen-Koning, KE; Pierik, LJ; Reijngoud, DJ; van Dael, CM; van Diggelen, OP; van Spronsen, FJ1
Bellini, C; Bertola, A; Bonioli, E; Caruso, U; DiStefano, A; Dorche, C; Fantasia, AR; Minniti, G; Palmieri, A1
de Kremer, RD; Larovere, L; Latini, A1
Chalmers, RA; Duffy, S; Harkness, RA; Jones, M; Purkiss, P1

Other Studies

6 other study(ies) available for hypoxanthine and Metabolism, Inborn Errors

ArticleYear
[Xanthinuria type 1 in a woman with arthralgias: a combined clinical and molecular genetic investigation].
    Deutsche medizinische Wochenschrift (1946), 2016, Volume: 141, Issue:8

    Topics: Arthralgia; Female; Humans; Hypoxanthine; Metabolism, Inborn Errors; Middle Aged; Xanthine; Xanthine Dehydrogenase

2016
A case of hereditary xanthinuria type 1 accompanied by bilateral renal calculi.
    Internal medicine (Tokyo, Japan), 2012, Volume: 51, Issue:14

    Topics: Aged; Amino Acid Sequence; Base Sequence; Codon, Nonsense; DNA Mutational Analysis; Female; Humans; Hypoxanthine; Kidney Calculi; Metabolism, Inborn Errors; Sequence Deletion; Xanthine; Xanthine Dehydrogenase

2012
Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion.
    Molecular genetics and metabolism, 2007, Volume: 90, Issue:2

    Topics: Acute Kidney Injury; Adolescent; Humans; Hypoxanthine; Hypoxanthine Phosphoribosyltransferase; Male; Metabolism, Inborn Errors; Reference Values; Uric Acid

2007
Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor.
    Journal of inherited metabolic disease, 1996, Volume: 19, Issue:5

    Topics: Coenzymes; Female; Fibroblasts; Humans; Hypoxanthine; Infant; Metabolism, Inborn Errors; Metalloproteins; Molybdenum; Molybdenum Cofactors; Nervous System Diseases; Oxidoreductases Acting on Sulfur Group Donors; Pteridines; Uric Acid; Xanthine; Xanthine Oxidase; Xanthines

1996
Purines, lactate and myo-inositol in CSF might reflect excitotoxicity in inherited metabolic disorders.
    Advances in experimental medicine and biology, 2000, Volume: 486

    Topics: Child; Child, Preschool; Glutamic Acid; Humans; Hypoxanthine; Infant; Inositol; Lactates; Metabolism, Inborn Errors; Purines; Receptors, Glutamate; Uric Acid; Uridine; Xanthine

2000
The effects of fetal energy depletion on amniotic fluid concentrations of amino acids, organic acids and related metabolites.
    Journal of inherited metabolic disease, 1988, Volume: 11, Issue:1

    Topics: Adenosine Triphosphate; Amino Acids; Amniotic Fluid; Arginine; Aspartic Acid; Asphyxia Neonatorum; Diagnosis, Differential; Female; Fetus; Humans; Hypoxanthine; Hypoxanthines; Infant, Newborn; Metabolism, Inborn Errors; Ornithine; Pregnancy; Uridine

1988