Literature DB >> 16601906

Calculation of the reliability of the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency.

Konrad Oexle.   

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Year:  2006        PMID： 16601906     DOI： 10.1007/s10545-006-0198-y

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.

Authors:  B A McCullough; M Yudkoff; M L Batshaw; J M Wilson; S E Raper; M Tuchman
Journal:  Am J Med Genet       Date:  2000-08-14

2.  Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiency.

Authors:  Konrad Oexle; Luisa Bonafé; Beat Steinmann
Journal:  Mol Genet Metab       Date:  2002-05       Impact factor: 4.797

3.  How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?

Authors:  S Grünewald; L Fairbanks; S Genet; T Cranston; J Hüsing; J V Leonard; M P Champion
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982
  3 in total

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