Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria.
Alvarado
C S
CS
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322.
Livingstone
L R
LR
Jones
M E
ME
Ravielle
A
A
McKolanis
J
J
Elsas
L J
LJ
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
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