Multicenter study on long-term growth in patients with phenylketonuria

An objective of PKU is that patients have satisfactory final physical development; the height prognosis seems to be associated with Phe and natural protein intake and therefore should be optimized. It is important to collect longitudinal growth data throughout childhood and adolescence in PKU that considers any change in growth in relationship to dietary patterns.

Authors

Institutions

Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2025-08-04
DOI
https://doi.org/10.1186/s13023-025-03946-3
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Multicenter study on long-term growth in patients with phenylketonuria

K. Dokoupil, Marianne Robert, Anna C. Muriel, Anita MacDonald et al.
Orphanet Journal of Rare Diseases
Metabolism and Genetic Disorders
article

Multicenter study on long-term growth in patients with phenylketonuria

K. Dokoupil, Marianne Robert, Anna C. Muriel, Anita MacDonald, Sinziana Stanescu, Hülya Gökmen-Özel, Júlio César Rocha, Esther van Dam, Kirsten Ahring, Amaya Bélanger‐Quintana, M. F. Almeida, Anna Maria Lammardo
article en

Abstract

An objective of PKU is that patients have satisfactory final physical development; the height prognosis seems to be associated with Phe and natural protein intake and therefore should be optimized. It is important to collect longitudinal growth data throughout childhood and adolescence in PKU that considers any change in growth in relationship to dietary patterns.

Orphanet Journal of Rare DiseasesVol. 20(1)
University Medical Center Groningen (NL), University of Groningen (NL), Universidade do Porto (PT), Copenhagen University Hospital (DK), Centro de Genética Clínica (PT), Kennedy Center (DK), Birmingham Children's Hospital (GB), Administração Regional de Saúde de Lisboa e Vale do Tejo (PT), Ospedale San Paolo (IT), München Klinik (DE), Instituto Ramón y Cajal de Investigación Sanitaria (ES), i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (PT), Hospital Universitario Ramón y Cajal (ES), Universidade Nova de Lisboa (PT)
Zero hunger
Openalex Percentile: Top 77%
Metabolism and Genetic Disorders
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

Multicenter study on long-term growth in patients with phenylketonuria — K. Dokoupil, Marianne Robert, et al. · Orphanet Journal of Rare Diseases (2025) | TGRS Research Map | TGRS