Literature DB >> 6828110

Cellular immune deficiency in two siblings with hereditary orotic aciduria.

R Girot, M Hamet, J L Perignon, M Guesnu, R M Fox, P Cartier, A Durandy, C Griscelli.   

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Year:  1983        PMID： 6828110     DOI： 10.1056/NEJM198303243081207

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  10 in total

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2.  The experimental and clinical use of immune-modulating drugs in the prophylaxis and treatment of infections.

Authors:  J Drews
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Review 3.  PRPS1 mutations: four distinct syndromes and potential treatment.

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4.  Immunostimulation. Clinical and experimental perspectives.

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5.  The experimental and clinical use of immune-modulating drugs in the prophylaxis and treatment of infections.

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6.  Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

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7.  Comparison of the bioavailability of uridine in mice after either oral or parenteral administration.

Authors:  P Klubes; D B Geffen; R L Cysyk
Journal:  Cancer Chemother Pharmacol       Date:  1986       Impact factor: 3.333

8.  Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation.

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Journal:  Mol Genet Metab Rep       Date:  2021-01-09

9.  Preliminary effects of oral uridine on the ocular surface in dry eye patients.

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10.  Megaloblastic anemia and immune abnormalities in a patient with methionine synthase deficiency.

Authors:  J Zittoun; A Fischer; J Marquet; J L Pérignon; A Lagrue; C Griscelli
Journal:  Acta Paediatr Scand       Date:  1987-11
  10 in total

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