Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase
Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase
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Publisher
Dordrecht: Kluwer Academic Publishers
Journal title
Language
English
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Dordrecht: Kluwer Academic Publishers
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Contents
Massive urinary excretion of xanthurenic acid, 3‐hydroxykynurenine and kynurenine, known as xanthurenic aciduria or hydroxykynureninuria, in a young Somali boy suggested kynureninase deficiency. Mutation analysis of KYNU encoding kynureninase of the index case revealed homozygosity for a c.593 A > G substitution leading to a threonine‐to‐alanine (T...
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Full title
Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase
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TN_cdi_proquest_journals_218827575
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_218827575
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-007-0396-2
