Phenylketonuria
Phenylketonuria
About this item
Full title
Phenylketonuria
Author / Creator
Publisher
Kidlington: Elsevier Ltd
Journal title
The Lancet (British edition), 2010-10, Vol.376 (9750), p.1417-1427
Language
English
Formats
Publication information
Publisher
Kidlington: Elsevier Ltd
Subjects
More information
Scope and Contents
Contents
Summary Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, resu...
Alternative Titles
Full title
Phenylketonuria
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_760235028
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_760235028
Other Identifiers
ISSN
0140-6736
E-ISSN
1474-547X
DOI
10.1016/S0140-6736(10)60961-0
