ReviewOrphanet journal of rare diseases2020
PKU dietary handbook to accompany PKU guidelines.
Review in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 142 papers, 9 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
142 citing papers in PubMed, 9 syntheses or guidelines pooled it, 222 citations in OpenAlex.
- Is Phenylalanine Restricted Dietary Treatment in Phenylketonuria Associated with Disordered Eating: A Systematic Review.Nutrients · 2026Pooled it
- Metabolomic profiling in phenylketonuria: a systematic review of human studies.Metabolomics : Official journal of the Metabolomic Society · 2026Pooled it
- Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2024Pooled it
- Systematic Review and Meta-Analysis of Dietary Interventions and Microbiome in Phenylketonuria.International journal of molecular sciences · 2023Pooled it
- Phenylalanine Tolerance over Time in Phenylketonuria: A Systematic Review and Meta-Analysis.Nutrients · 2023Pooled it
- Overweight and obesity in adult patients with phenylketonuria: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Italian national consensus statement on management and pharmacological treatment of phenylketonuria.Orphanet journal of rare diseases · 2021Pooled it
- Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- Protein Substitute Requirements of Patients with Phenylketonuria on BH4 Treatment: A Systematic Review and Meta-Analysis.Nutrients · 2021Pooled it
- Effects of a Prolonged-Release Protein Substitute on 24-h Phenylalanine and Tyrosine Profiles in Phenylketonuria: A Randomized Crossover Study.Nutrients · 2026Trial
- Randomized investigation to evaluate phenylalanine fluctuation after overnight fasting in PKU patients treated with prolonged-release versus standard amino acid protein substitute.Orphanet journal of rare diseases · 2026Trial
- Gut Microbiota-Generated Phenylacetylglutamine and Heart Failure.Circulation. Heart failure · 2023Trial
- Trial
- Efficacy of a New Low-Protein Multimedia Diet App for PKU.Nutrients · 2022Trial
- Longitudinal Metabolic Control in Children With Early-Treated Phenylketonuria.JAMA network open · 2026Article
- Article
- Article
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- Targeting Mutant Phenylalanine Hydroxylase With Pyrimidine-Triazole Conjugates: A Primary Framework for Candidate Chaperone-Based Strategies in Phenylketonuria.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Laboratory Monitoring of Nutritional Deficiencies in Children Following Restrictive Diets: A Narrative Review and Risk-Based Considerations.Children (Basel, Switzerland) · 2026Review
82 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
18 authors at 17 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPhenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. MAIN BODY: In 2017 the first European PKU Guidelines were published. These guidelines contained evidence based and/or expert opinion recommendations regarding diagnosis, treatment and care for patients with PKU of all ages. This manuscript is a supplement containing the practical application of the dietary treatment.
conclusionThis handbook can support dietitians, nutritionists and physicians in starting, adjusting and maintaining dietary treatment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.