Research graph
References from Longitudinal Metabolic Control in Children With Early-Treated Phenylketonuria. Local targets link to admitted publications; unresolved targets remain external evidence.
European guidelines on diagnosis and treatment of phenylketonuria: first revision.
10.1016/j.ymgme.2025.109125 · 2025 · External reference
Phenylalanine hydroxylase deficiency diagnosis and management: a 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
10.1016/j.gim.2024.101289 · 2025 · External reference
Advancing gene therapy for phenylketonuria: from precision editing to clinical translation.
10.3390/ijms26178722 · 2025 · External reference
PKU dietary handbook to accompany PKU guidelines.
10.1186/s13023-020-01391-y · 2020 · External reference
International survey on phenylketonuria newborn screening.
10.3390/ijns11010018 · 2025 · External reference
Newborn screening and related policy against phenylketonuria in China.
10.5582/irdr.2013.v2.3.72 · 2013 · External reference
Initial results from the PHEFREE longitudinal natural history study: cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency.
10.1016/j.ymgme.2024.108541 · 2024 · External reference
Metabolic control and clinical outcome in adolescents with phenylketonuria.
10.1016/j.ymgme.2023.107684 · 2023 · External reference
Metabolic control and frequency of clinical monitoring among Canadian children with phenylalanine hydroxylase deficiency: a retrospective cohort study.
10.1002/jmd2.70042 · 2025 · External reference
Metabolic control of patients with phenylketonuria in a Portuguese metabolic centre comparing three different recommendations.
10.3390/nu13093118 · 2021 · External reference
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria.
10.1016/j.ymgme.2013.01.007 · 2013 · External reference
Blood phenylalanine control in phenylketonuria: a survey of 10 European centres.
10.1038/ejcn.2010.258 · 2011 · External reference
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics.
10.1016/j.ymgme.2019.12.007 · 2020 · External reference
Blood phenylalanine control in adolescents with phenylketonuria.
10.1515/ijamh.2004.16.1.41 · 2004 · External reference
The reality of dietary compliance in the management of phenylketonuria.
10.1007/s10545-010-9073-y · 2010 · External reference
Factors affecting adherence to a low phenylalanine diet in patients with phenylketonuria: a systematic review.
10.3390/nu16183119 · 2024 · External reference
Blood phenylalanine levels in patients with phenylketonuria from Europe between 2012 and 2018: is it a changing landscape?
10.3390/nu16132064 · 2024 · External reference
Nutritional support of neurodevelopment and cognitive function in infants and young children—an update and novel insights.
10.3390/nu13010199 · 2021 · External reference
First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU.
10.1016/j.ymgmr.2017.09.003 · 2017 · External reference
Correlation of age-specific phenylalanine levels with intellectual outcome in patients with phenylketonuria.
10.1007/s10545-011-9329-1 · 2011 · External reference
Treatment adherence during childhood in individuals with phenylketonuria: early signs of treatment discontinuation.
10.1016/j.ymgmr.2017.04.006 · 2017 · External reference
Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis.
10.1007/s10545-012-9564-0 · 2013 · External reference
The impact of phenylalanine levels on cognitive outcomes in adults with phenylketonuria: effects across tasks and developmental stages.
10.1037/neu0000336 · 2017 · External reference
Factors influencing the quality of life of 104 children with phenylketonuria in Anhui Province, China.
2016 · External reference
Phenylketonuria patients’ and their parents’ knowledge and attitudes to the daily diet—multi-centre study.
10.1186/s12986-017-0207-1 · 2017 · External reference
Knowledge, compliance and serum phenylalanine concentrations in adolescents and adults with phenylketonuria and the effect of a patient-focused educational resource.
10.1111/j.1365-277x.2008.00879.x · 2008 · External reference
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
10.1016/j.ymgme.2018.06.011 · 2018 · External reference
Demographic and psychosocial influences on treatment adherence for children and adolescents with PKU: a systematic review.
2018 · External reference
Progress of newborn screening in China.
2023 · External reference
Consensus statement on dietary treatment and nutritional management for phenylalanine hydroxylase deficiency.
2019 · External reference
Expert consensus on transitional management of adolescents with phenylalanine hydroxylase deficiency.
2024 · External reference
The impact of metabolic control on cognition, neurophysiology, and well-being in PKU: a systematic review and meta-analysis of the within-participant literature.
10.1016/j.ymgme.2022.106969 · 2023 · External reference
Sepiapterin for the treatment of phenylketonuria.
10.1080/14656566.2025.2498477 · 2025 · External reference
Pegvaliase treatment for adolescents with phenylketonuria: a multi-site study.
10.1002/jmd2.70070 · 2026 · External reference
