Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria
- 30 November 1988
- journal article
- case report
- Published by Elsevier in The Journal of Pediatrics
- Vol. 113 (5) , 867-871
- https://doi.org/10.1016/s0022-3476(88)80021-0
Abstract
No abstract availableThis publication has 12 references indexed in Scilit:
- Increase of protein synthesis by uridine supplement in lectin-stimulated peripheral blood lymphocytes and EB virus-transformed B cell line of hereditary orotic aciduria type I.The Tohoku Journal of Experimental Medicine, 1987
- Absence of Immune Deficiency in Hereditary Orotic AciduriaNew England Journal of Medicine, 1984
- Structural gene coding for multifunctional protein carrying orotate phosphoribosyltransferase and OMP decarboxylase activity is located on long arm of human chromosome 3Somatic Cell and Molecular Genetics, 1983
- Cellular Immune Deficiency in Two Siblings with Hereditary Orotic AciduriaNew England Journal of Medicine, 1983
- Neonatal diagnosis of orotic aciduria: An experience with one familyThe Journal of Pediatrics, 1983
- Radioassay of orotic acid phosphoribosyltransferase and orotidylate decarboxylase utilizing a high-voltage paper electrophoresis technique or an improved 14CO2-release methodAnalytical Biochemistry, 1975
- Hereditary Orotic Aciduria: Evidence for a Structural Gene MutationProceedings of the National Academy of Sciences, 1974
- Hereditary orotic aciduria: Long-term therapy with uridine and a trial of uracilThe Journal of Pediatrics, 1969
- Orotic aciduriaThe American Journal of Medicine, 1969
- Megaloblastic Anemia and Orotic AciduriaAmerican Journal of Diseases of Children, 1967