ArticleOrphanet journal of rare diseases2018
Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age.
Article in Orphanet journal of rare diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis 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
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Protein Substitute Requirements of Patients with Phenylketonuria on BH4 Treatment: A Systematic Review and Meta-Analysis.Nutrients · 2021Pooled it
- Spectrum ofBiomedical reports · 2025Article
- Recent Advances in Phenylketonuria: A Review.Cureus · 2023Review
- The Utility of Genomic Testing for Hyperphenylalaninemia.Journal of clinical medicine · 2022Review
- Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe.Orphanet journal of rare diseases · 2020Review
- Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia.International journal of molecular sciences · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTreatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone. Accordingly, approval of sapropterin in the European Union was extended in 2015 to include patients aged 0-4 years, bringing the treatment age range in line with that in the USA and providing an additional treatment option for those patients with PKU who are responsive or partially responsive to treatment with sapropterin. Subsequently, European guidelines have been published on the diagnosis and management of patients with PKU. However, testing for PKU can be demanding and requires particular expertise. We have compiled experience-based, real-world guidance in an algorithmic format to complement the published guidelines, with the overall aim to achieve optimized and individualized care for patients with PKU.
resultsOur guidance covers aspects such as how to perform, monitor and interpret appropriate biochemical measures to achieve effective patient management and desired outcomes, how to perform a tetrahydrobiopterin (BH
conclusionsReal-world-based guidance is particularly important in managing therapeutic strategies in newborns with PKU to achieve optimal long-term outcomes and will serve as a complement to the other published guidelines.
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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.