PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from...
PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania
About this item
Full title
Author / Creator
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (
) gene and is characterized by altered amino acid metabolism. More than 1500 known
variants intricately determine a spectrum of metabolic phenotypes. We aim to report on clinical presentation and
variants identified in 23 hyperphenylalaninemia (HPA)/PKU Romania...
Alternative Titles
Full title
PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e37b6e4f058341aab51ca06b317495dc
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e37b6e4f058341aab51ca06b317495dc
Other Identifiers
ISSN
2075-4418
E-ISSN
2075-4418
DOI
10.3390/diagnostics13081483
