Evidence map›Paper›PMID 32605583›Full record

ReviewOrphanet journal of rare diseases2020

PKU dietary handbook to accompany PKU guidelines.

A MacDonald, A M J van Wegberg, K Ahring, S Beblo, A Bélanger-Quintana, A Burlina, J Campistol, T Coşkun, F Feillet, M Giżewska and 8 more

Erratum issuedOpen access · goldAbstract readReview
In one paragraph

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.

0numbers the graph read from it
0cells of the map it votes in
142citing papers in PubMed, 9 pooled it
16.7field-weighted citation impact, top 1% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

142 citing papers in PubMed, 9 syntheses or guidelines pooled it, 222 citations in OpenAlex.

  1. Pooled it
  2. Metabolomic profiling in phenylketonuria: a systematic review of human studies.Metabolomics : Official journal of the Metabolomic Society · 2026
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  19. 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 · 2026
    Article
  20. Review

82 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors at 17 institutions in 10 countries.

A MacDonaldDietetic Department, Birmingham Children's Hospital, Birmingham, UK.
A M J van WegbergDivision of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700, RB, Groningen, The Netherlands.ORCID 0000-0002-9402-4833
K AhringDepartment of PKU, Kennedy Centre, Glostrup, Denmark.
S BebloDepartment of Women and Child Health, Center for Pediatric Research Leipzig, Hospital for Children and Adolescents, University Hospitals, Leipzig, Germany.
A Bélanger-QuintanaMetabolic Diseases Unit, Department of Paediatrics, Hospital Ramon y Cajal Madrid, Madrid, Spain.
A BurlinaDivision of Inherited Metabolic Diseases, Department of Paediatrics, University Hospital of Padova, Padova, Italy.
J CampistolNeuropaediatrics Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
T CoşkunHacettepe University Faculty of Medicine, Ankara, Turkey.
F FeilletDepartment of Paediatrics, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France.
M GiżewskaDepartment of Paediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
S C HuijbregtsDepartment of Clinical Child and Adolescent Studies-Neurodevelopmental Disorders, Faculty of Social Sciences, Leiden University, Leiden, The Netherlands.
V LeuzziDepartment of Paediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185, Rome, Italy.
F MaillotCHRU de Tours, Université François Rabelais, INSERM U1069, Tours, France.
A C MuntauUniversity Children's Hospital, University Medical Centre Hamburg-Eppendorf, 20246, Hamburg, Germany.
J C RochaNutrition & Metabolism, NOVA Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, Portugal. Centre for Health Technology and Services Research (CINTESIS), Porto, Portugal.
C RomaniSchool of Life and Health Sciences, Aston University, Birmingham, UK.
F TrefzDepartment of Paediatrics, University of Heidelberg, Heidelberg, Germany.
F J van SpronsenDivision of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, 9700, RB, Groningen, The Netherlands. f.j.van.spronsen@umcg.nl.
University Medical Center Groningen · NLAston University · GBBirmingham Children's Hospital · GBCentre for Health Technology and Services Research · PTHacettepe University · TRHeidelberg University · DEHôpital d'Enfants · FRHospital Sant Joan de Déu Barcelona · ESHospital Universitario Ramón y Cajal · ESKennedy Center · DKLeiden University · NLPomeranian Medical University · PLSapienza University of Rome · ITUniversität Hamburg · DEUniversité de Tours · FRUniversity Hospital Leipzig · DEUniversity of Padua · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Phenylalanine HydroxylasePhenylketonuriasDietHumansPhenylalanineTyrosinePhenylalaninePhenylalanine HydroxylaseTyrosineDietGuidelinesPhenylketonuriaPKURecommendationsTreatment

Identifiers

PMID32605583
PMCPMC7329487
OpenAlexW3040599267

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.