Deranged Liver Function in a Neonate
Deranged Liver Function in a Neonate
About this item
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Author / Creator
Publisher
England: Oxford University Press
Journal title
Language
English
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Publication information
Publisher
England: Oxford University Press
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Scope and Contents
Contents
[...]of the enzyme block, hepatotoxic intermediates such as maleyland fumarylacetoacetic acids accumulate and are ultimately metabolized to succinylacetone (SUAC), a highly specific marker for TYR1 (1) (Fig. 2). Molecular analysis of the fumarylacetoacetate hydrolase (FAH) gene demonstrated compound heterozygous status for 2 mutations, one of which...
Alternative Titles
Full title
Deranged Liver Function in a Neonate
Authors, Artists and Contributors
Author / Creator
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Record Identifier
TN_cdi_proquest_miscellaneous_1835689355
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1835689355
Other Identifiers
ISSN
0009-9147
E-ISSN
1530-8561
DOI
10.1373/clinchem.2016.259713
