Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

11 Dec 2006

Abstract excerpt

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 those who are treated early and continuously. However, the developmental...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Diet and metabolism studies
Share to Metabolism and Genetic Disorders
Share to Mitochondrial Function and Pathology

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 17160615
DOI: 10.1007/s10545-006-0433-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuriaPMID 17160615Read ↗

Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnairesSemantic proximity Read ↗

Phenylketonuria, co‐morbidity, and ageing: A reviewSemantic proximity Read ↗

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.Semantic proximity Read ↗

Quality of life in children treated with restrictive diet for inherited metabolic disease.Semantic proximity Read ↗

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.Semantic proximity Read ↗

The Effect of Improved Dietary Control on Cognitive and Psychiatric Functioning in Adults With Phenylketonuria: The ReDAPT StudySemantic proximity Read ↗

Quality of Life Evaluation Using the Kidslife Scale in Individuals with Cornelia de Lange SyndromeSemantic proximity Read ↗

Quality of life among parents of children with phenylketonuria (PKU)Semantic proximity Read ↗

Neurological complications and behavioral problems in patients with phenylketonuria in a follow-up unit.Semantic proximity Read ↗

Neuropsychologic functions of early treated patients with phenylketonuria, on and off diet: results of a cross-national and cross-sectional study.Semantic proximity Read ↗

A Retrospective Chart Review and Infant Feeding Survey in the Irish Phenylketonuria (PKU) Population (2016–2020)Semantic proximity Read ↗

Quality of life of children with achondroplasia and their parents - a German cross-sectional studySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.