The course of life and quality of life of early and continuously treated Dutch patients with phenylk...
The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria
About this item
Full title
Author / Creator
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
Summary
Phenylketonuria (PKU; OMIM 261600) is an autosomal recessive disorder of phenylalanine metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH; EC 1.14.16.1). Cognitive problems, neuropsychological abnormalities and psychosocial problems have been reported frequently in children and adolescents with PKU, even in th...
Alternative Titles
Full title
The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_68927744
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68927744
Other Identifiers
ISSN
0141-8955
E-ISSN
1573-2665
DOI
10.1007/s10545-006-0433-6