Literature DB >> 14243056

HEREDITARY OROTIC ACIDURIA AND MEGALOBLASTIC ANAEMIA: A SECOND CASE, WITH RESPONSE TO URIDINE.

D M BECROFT, L I PHILLIPS.   

Abstract

Entities:  

Keywords:  ANEMIA, MACROCYTIC; BONE MARROW EXAMINATION; CHILD; EXCRETION; FOLIC ACID; INFANT; METABOLISM, INBORN ERRORS; NUCLEOSIDES; OROTIC ACID; PROGNOSIS; PYRIDOXINE; THYROXINE; URINE; VITAMIN B 12

Mesh：

Substances：

Year:  1965        PMID： 14243056      PMCID： PMC2166778          DOI： 10.1136/bmj.1.5434.547

Source DB:  PubMed          Journal:  Br Med J        ISSN： 0007-1447


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  11 in total

1.  The metabolism of ring-labeled orotic acid in man.

Authors:  S M WEISSMAN; A Z EISEN; H FALLON; M LEWIS; M KARON
Journal:  J Clin Invest       Date:  1962-07       Impact factor: 14.808

2.  Studies on congenital orotic aciduria: comparison of orotic acid metabolism in microorganisms.

Authors:  L H SMITH; M LOTZ
Journal:  J Lab Clin Med       Date:  1963-02

3.  Genetic regulatory mechanisms in the synthesis of proteins.

Authors:  F JACOB; J MONOD
Journal:  J Mol Biol       Date:  1961-06       Impact factor: 5.469

4.  Pyrimidine metabolism in man. I. The biosynthesis of orotic acid.

Authors:  L H SMITH; F A BAKER
Journal:  J Clin Invest       Date:  1959-05       Impact factor: 14.808

5.  A GENETIC STUDY OF HEREDITARY OROTIC ACIDURIA.

Authors:  H J FALLON; L H SMITH; J B GRAHAM; C H BURNETT
Journal:  N Engl J Med       Date:  1964-04-23       Impact factor: 91.245

6.  Enzymology of nucleic acids, purines, and pyrimidines.

Authors:  L A HEPPEL; J C RABINOWITZ
Journal:  Annu Rev Biochem       Date:  1958       Impact factor: 23.643

7.  Control of pyrimidine biosynthesis in Escherichia coli by a feed-back mechanism.

Authors:  A B PARDEE; R A YATES
Journal:  J Biol Chem       Date:  1956-08       Impact factor: 5.157

8.  Chromosome Changes Caused by 6-Azauridine During Treatment of Acute Myeloblastic Leukaemia.

Authors:  M W Elves; A S Buttoo; M C Israels; J F Wilkison
Journal:  Br Med J       Date:  1963-01-19

9.  PYRIMIDINE METABOLISM IN MAN. IV. THE ENZYMATIC DEFECT OF OROTIC ACIDURIA.

Authors:  L H Smith; M Sullivan; C M Huguley
Journal:  J Clin Invest       Date:  1961-04       Impact factor: 14.808

10.  Properties of acatalasic cells growing in vitro.

Authors:  R S KROOTH; R R HOWELL; H B HAMILTON
Journal:  J Exp Med       Date:  1962-02-01       Impact factor: 14.307
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  9 in total

1.  Identification of broad-spectrum antiviral compounds and assessment of the druggability of their target for efficacy against respiratory syncytial virus (RSV).

Authors:  Aurelio Bonavia; Michael Franti; Erin Pusateri Keaney; Kelli Kuhen; Mohindra Seepersaud; Branko Radetich; Jian Shao; Ayako Honda; Janetta Dewhurst; Kara Balabanis; James Monroe; Karen Wolff; Colin Osborne; Leanne Lanieri; Keith Hoffmaster; Jakal Amin; Judit Markovits; Michelle Broome; Elizabeth Skuba; Ivan Cornella-Taracido; Gerard Joberty; Tewis Bouwmeester; Lawrence Hamann; John A Tallarico; Ruben Tommasi; Teresa Compton; Simon M Bushell
Journal:  Proc Natl Acad Sci U S A       Date:  2011-04-18       Impact factor: 11.205

2.  Screening tests for argininosuccinic aciduria, orotic aciduria, and other inherited enzyme deficiencies using dried blood specimens.

Authors:  W H Murphey; L Patchen; R Guthrie
Journal:  Biochem Genet       Date:  1972-02       Impact factor: 1.890

Review 3.  Lessons from inborn errors of metabolism.

Authors:  M D Milne
Journal:  Proc R Soc Med       Date:  1966-11

4.  Studies on the control of pyrimidine biosynthesis in human diploid cell strains, I. Effect of 6-azauridine on cellular phenotype.

Authors:  L Pinsky; R S Krooth
Journal:  Proc Natl Acad Sci U S A       Date:  1967-04       Impact factor: 11.205

5.  [The influence of allopurinol on purine- and pyrimidinesynthesis (author's transl)].

Authors:  W Gröbner; N Zöllner
Journal:  Klin Wochenschr       Date:  1978-03-15

6.  Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts.

Authors:  J K Winkler; D P Suttle
Journal:  Am J Hum Genet       Date:  1988-07       Impact factor: 11.025

7.  Hybridization of two biochemically marked human cell lines.

Authors:  S Silagi; G Darlington; S A Bruce
Journal:  Proc Natl Acad Sci U S A       Date:  1969-04       Impact factor: 11.205

8.  Systems-level characterization of a host-microbe metabolic symbiosis in the mammalian gut.

Authors:  Almut Heinken; Swagatika Sahoo; Ronan M T Fleming; Ines Thiele
Journal:  Gut Microbes       Date:  2012-09-28

9.  Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Authors:  Saskia B Wortmann; Margaret A Chen; Roberto Colombo; Alessandro Pontoglio; Bader Alhaddad; Lorenzo D Botto; Tatiana Yuzyuk; Curtis R Coughlin; Maria Descartes; Stephanie Grűnewald; Bruno Maranda; Philippa B Mills; James Pitt; Catherine Potente; Richard Rodenburg; Leo A J Kluijtmans; Srirangan Sampath; Emil F Pai; Ron A Wevers; George E Tiller
Journal:  J Inherit Metab Dis       Date:  2017-02-15       Impact factor: 4.982
  9 in total

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