LAT1 gene variants—potential factors influencing the clinical course of phenylketonuria
LAT1 gene variants—potential factors influencing the clinical course of phenylketonuria
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Publisher
Dordrecht: Kluwer Academic Publishers
Journal title
Language
English
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Publisher
Dordrecht: Kluwer Academic Publishers
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Contents
Summary
The LAT1 amino acid exchanger is responsible for phenylalanine transport across the blood–brain barrier. As phenylalanine excess in the brain leads to mental retardation in untreated patients with phenylketonuria, mutations of the LAT1 gene can be responsible for milder clinical manifestations (lower brain toxicity of hyperphenylalaninae...
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Full title
LAT1 gene variants—potential factors influencing the clinical course of phenylketonuria
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Record Identifier
TN_cdi_proquest_miscellaneous_19341981
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_19341981
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-006-0285-0
