ArticleOrphanet journal of rare diseases2013
Requirements for a minimum standard of care for phenylketonuria: the patients' perspective.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 49 citations in OpenAlex.
- Italian national consensus statement on management and pharmacological treatment of phenylketonuria.Orphanet journal of rare diseases · 2021Pooled it
- A systematic review of cognitive functioning in early treated adults with phenylketonuria.Orphanet journal of rare diseases · 2018Pooled it
- The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.Nutrients · 2026Review
- Review
- "I think if we don't eat well, we will be sicker": a qualitative perspective on contributing factors to diet intake and nutrition among adults living with SCD in the United States.Journal of sickle cell disease · 2026Article
- Psychometric properties of perceived barriers to PKU treatment inventory in a Brazilian national sample.Orphanet journal of rare diseases · 2025Observational
- Global Clinical Practice in Transitioning Protein Substitutes for Children with Phenylketonuria.Nutrients · 2025Article
- The organizational dimension in rare and complex diseases care management: an application of RarERN PathBMC health services research · 2025Article
- Our lives with PKU: German patient voices - "Nothing about us without us".Molecular genetics and metabolism reports · 2025Article
- An Oxford Nanopore Technologies-Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort.International journal of genomics · 2025Article
- Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion).Molecular genetics and metabolism reports · 2024Review
- The COVID-19 pandemic impact on continuity of care provision on rare brain diseases and on ataxias, dystonia and PKU. A scoping review.Orphanet journal of rare diseases · 2024Article
- Patient's thoughts and expectations about centres of expertise for PKU.Orphanet journal of rare diseases · 2021Article
- A holistic approach to the patients/ Families with inborn errors of metabolism.Journal of mother and child · 2020Review
- The Epidemiology of Transition into Adulthood of Rare Diseases Patients: Results from a Population-Based Registry.International journal of environmental research and public health · 2018Article
- Dietary patterns, cost and compliance with low-protein diet of phenylketonuria and other inherited metabolic diseases.European journal of clinical nutrition · 2018Observational
- The complete European guidelines on phenylketonuria: diagnosis and treatment.Orphanet journal of rare diseases · 2017Review
- Phenylketonuria screening in the Republic of Macedonia.Orphanet journal of rare diseases · 2016Article
- Protein substitutes for phenylketonuria in Europe: access and nutritional composition.European journal of clinical nutrition · 2016Article
- Phenylketonuria (PKU): A problem solved?Molecular genetics and metabolism reports · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Phenylketonuria (PKU, ORPHA716) is an inherited disorder that affects about one in every 10,000 children born in Europe. Early and continuous application of a modified diet is largely successful in preventing the devastating brain damage associated with untreated PKU. The management of PKU is inconsistent: there are few national guidelines, and these tend to be incomplete and implemented sporadically. In this article, the first-ever pan- European patient/carer perspective on optimal PKU care, the European Society for Phenylketonuria and Allied Disorders (E.S.PKU) proposes recommendations for a minimum standard of care for PKU, to underpin the development of new pan-European guideline for the management of PKU. New standards of best practice should guarantee equal access to screening, treatment and monitoring throughout Europe. Screening protocols and interpretation of screening results should be standardised. Experienced Centres of Expertise are required, in line with current European Union policy, to guarantee a defined standard of multidisciplinary treatment and care for all medical and social aspects of PKU. Women of childbearing age require especially intensive management, due to the risk of severe risks to the foetus conferred by uncontrolled PKU. All aspects of treatment should be reimbursed to ensure uniform access across Europe to guideline-driven, evidence-based care. The E.S.PKU urges PKU healthcare professionals caring for people with PKU to take the lead in developing evidence based guidelines on PKU, while continuing to play an active role in serving as the voice of patients and their families, whose lives are affected by the condition.
Indexed as
Identifiers
What OpenQuestion holds
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.