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Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosis. 1985

P Desjacques, and B Mousson, and C Vianey-Liaud, and R Boulieu, and C Bory, and P Baltassat, and P Divry, and M T Zabot, and J Cotte, and P Lagier

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D008661 Metabolism, Inborn Errors Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D010088 Oxidoreductases The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9) Dehydrogenases,Oxidases,Oxidoreductase,Reductases,Dehydrogenase,Oxidase,Reductase
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014969 Xanthine Oxidase An iron-molybdenum flavoprotein containing FLAVIN-ADENINE DINUCLEOTIDE that oxidizes hypoxanthine, some other purines and pterins, and aldehydes. Deficiency of the enzyme, an autosomal recessive trait, causes xanthinuria. Hypoxanthine Oxidase,Hypoxanthine Dehydrogenase,Hypoxanthine-Xanthine Oxidase,Purine-Xanthine Oxidase,Dehydrogenase, Hypoxanthine,Hypoxanthine Xanthine Oxidase,Oxidase, Hypoxanthine,Oxidase, Hypoxanthine-Xanthine,Oxidase, Purine-Xanthine,Oxidase, Xanthine,Purine Xanthine Oxidase
D050862 Oxidoreductases Acting on Sulfur Group Donors Oxidoreductases with specificity for oxidation or reduction of SULFUR COMPOUNDS. Sulfite Reductase,Sulfite Dehydrogenases,Sulfite Oxidases,Sulfite Reductases,Dehydrogenases, Sulfite,Oxidases, Sulfite,Reductase, Sulfite,Reductases, Sulfite

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