Uridine-responsive hypogammaglobulinemia and congenital heart disease in a patient with hereditary orotic aciduria
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference15 articles.
1. Hereditary orotic aciduria;Kelley,1983
2. Structural gene coding for multifunctional protein carrying orotate phosphoribosyl-transferase and OMP decarboxylase activity is located on long arm of human chromosome 3;Patterson;Somatic Cell Mol Genet,1983
3. Orotic aciduria: differing enzyme patterns;Fox;Am J Med,1969
4. Cellular immune deficiency in two siblings with hereditary orotic aciduria;Girot;N Engl J Med,1983
5. Increase in protein synthesis by uridine supplement in lectin-stimulated peripheral blood lymphocytes and EB virus-transformed B cell line of hereditary orotic aciduria type I;Yazaki;Tohoki J Exp Med,1987
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1. Genetic syndromes with evidence of immune deficiency;Stiehm's Immune Deficiencies;2020
2. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences;Journal of Inherited Metabolic Disease;2017-02-15
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4. Vaccination in children with inborn errors of metabolism;Vaccine;2012-11
5. Syndromic Immunodeficiencies: Genetic Syndromes Associated with Immune Abnormalities;Critical Reviews in Clinical Laboratory Sciences;2003-01
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