title: Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria.
authors.affiliation: Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322.
authors.forename: C S
authors.initials: CS
authors.lastname: Alvarado
authors.forename: L R
authors.initials: LR
authors.lastname: Livingstone
authors.forename: M E
authors.initials: ME
authors.lastname: Jones
authors.forename: A
authors.initials: A
authors.lastname: Ravielle
authors.forename: J
authors.initials: J
authors.lastname: McKolanis
authors.forename: L J
authors.initials: LJ
authors.lastname: Elsas
mesh_terms: D000361:Agammaglobulinemia / Q000150:complications* / Q000188:drug therapy; D002262:Carboxy-Lyases / Q000172:deficiency*; D002675:Child, Preschool; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000150:complications; D006801:Humans; D009097:Multienzyme Complexes / Q000172:deficiency*; D009962:Orotate Phosphoribosyltransferase / Q000172:deficiency*; D009963:Orotic Acid / Q000652:urine*; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000172:deficiency*; D010430:Pentosyltransferases / Q000172:deficiency*; D011666:Pulmonary Valve Stenosis / Q000150:complications; D014529:Uridine / Q000627:therapeutic use
chemical_list: D009097:Multienzyme Complexes; D009963:Orotic Acid; C027157:uridine 5'-monophosphate synthase; D010430:Pentosyltransferases; D009962:Orotate Phosphoribosyltransferase; D002262:Carboxy-Lyases; D009964:Orotidine-5'-Phosphate Decarboxylase; D014529:Uridine