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Nucleosides, Nucleotides and Nucleic Acids, ISSN 1525-7770, 06/2018, Volume 37, Issue 6, pp. 324 - 328
Hereditary xanthinuria (type I) is caused by an inherited deficiency of the xanthine oxidorectase (XDH/XO), and is characterized by very low concentration of... 
hypouricemia | xanthine oxidoreductase deficiency | hereditary xanthinuria | BIOCHEMISTRY & MOLECULAR BIOLOGY | Urinary Calculi - blood | Xanthine Dehydrogenase - metabolism | Aldehyde Oxidase - blood | Metabolism, Inborn Errors - urine | Humans | Child, Preschool | Metabolism, Inborn Errors - epidemiology | Aldehyde Oxidase - deficiency | Xanthine - urine | Purine-Pyrimidine Metabolism, Inborn Errors - diagnosis | Xanthine Dehydrogenase - deficiency | Czech Republic - epidemiology | Renal Tubular Transport, Inborn Errors - blood | Uric Acid - urine | Renal Tubular Transport, Inborn Errors - epidemiology | Xanthine Dehydrogenase - urine | Renal Tubular Transport, Inborn Errors - urine | Adult | Uric Acid - blood | Child | Purine-Pyrimidine Metabolism, Inborn Errors - epidemiology | Metabolism, Inborn Errors - blood | Diagnosis, Differential | Aldehyde Oxidase - urine | Xanthine - blood | Purines - metabolism | Urinary Calculi - epidemiology | Urinary Calculi - urine | Xanthine Dehydrogenase - blood | Metabolism, Inborn Errors - diagnosis | Purine-Pyrimidine Metabolism, Inborn Errors - blood | Purine-Pyrimidine Metabolism, Inborn Errors - urine | Allopurinol - metabolism | Urine | Creatinine | Kidneys | Hematuria | Oxidoreductase | Allopurinol | Xanthinuria | Uric acid | Xanthine | Sulfite | Sulfite oxidase | Xanthine oxidoreductase | Genetic analysis | Renal failure | Lithiasis | Aldehyde oxidase
Journal Article
Pediatrics, ISSN 0031-4005, 05/2010, Volume 125, Issue 5, pp. e1249 - e1254
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2015, Volume 38, Issue 2, pp. 231 - 242
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 98 - 98
Journal Article
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 155 - 159.e3
Background Purine nucleoside phosphorylase (PNP) deficiency is a rare form of autosomal recessive combined primary immunodeficiency caused by a enzyme defect... 
Allergy and Immunology | Purine nucleoside phosphorylase | tandem mass spectrometry | delayed-onset | inherited disorder | purine nucleoside phosphorylase–combined immunodeficiency | T-cell receptor excision circle | severe combined immunodeficiency | newborn screening | late-onset | purine nucleoside phosphorylase-combined immunodeficiency | IMMUNOLOGY | ALLERGY | PATIENT | MUTATIONS | ADENOSINE-DEAMINASE DEFICIENCY | Immunologic Deficiency Syndromes - pathology | Dried Blood Spot Testing | Humans | Child, Preschool | Infant | Male | Deoxyguanosine - analysis | Neonatal Screening | Purine-Nucleoside Phosphorylase - genetics | Purine-Pyrimidine Metabolism, Inborn Errors - diagnosis | Tandem Mass Spectrometry | Purine-Nucleoside Phosphorylase - deficiency | Inosine - analogs & derivatives | Female | Immunologic Deficiency Syndromes - diagnosis | Purine-Pyrimidine Metabolism, Inborn Errors - pathology | Infant, Newborn | Guanosine - analysis | Inosine - analysis | Inosine - metabolism | Guanosine - metabolism | Lymphocytes - pathology | DNA Repair | Adolescent | Purine-Pyrimidine Metabolism, Inborn Errors - genetics | Immunologic Deficiency Syndromes - genetics | Deoxyguanosine - metabolism | Mutation | Enzymes | Alkaloids | Neurosciences | Immunodeficiency | Nucleosides | Diagnosis | Children | Health aspects | Mass spectrometry | Genotype & phenotype | Metabolites | Disease | Newborn babies | Mortality | Infections | Medical screening | Patients | Clinical Medicine | Pediatrics | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap | Pediatrik
Journal Article
Rheumatology, ISSN 1462-0324, 07/2018, Volume 57, Issue 7, pp. 1180 - 1185
Journal Article