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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 phenylk...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68927744

The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria

About this item

Full title

The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria

Publisher

Dordrecht: Springer Netherlands

Journal title

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.29-34

Language

English

Formats

Publication information

Publisher

Dordrecht: Springer Netherlands

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

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

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