GuidelineOrphanet journal of rare diseases2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH
Erratum issuedAbstract readPractice GuidelineReview
In one paragraph
Guideline 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 88 papers, 6 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
88citing papers in PubMed, 6 pooled it
–field-weighted citation impact
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
88 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.Journal of inherited metabolic disease · 2025Guideline
- Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes.Movement disorders clinical practice · 2024Pooled it
- Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 2, specific diseases.Nature reviews. Endocrinology · 2024Guideline
- Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Birth prevalence of phenylalanine hydroxylase deficiency: a systematic literature review and meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- Follow-up and outcome of patients with primary BH4 deficiencies.Frontiers in neurologyPooled it
- Study protocol and pilot study results for a clinical intervention trial of PKU carriers and non-carriers: the Phe for Me trial.Orphanet journal of rare diseases · 2026Trial
- 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
- Immunological aspects and quality of life among patients with lichen sclerosus.Skin health and disease · 2026Review
- Burden and severity of inherited monoamine neurotransmitter rare genetic disorders in India.Orphanet journal of rare diseases · 2026Review
- A Systematic Bioinformatic Analysis of the miRNA Pathway in Inborn Errors of Amino Acid Metabolism Disorders.Molecular syndromology · 2026Article
- Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.Human genomics · 2026Article
- Early Levodopa Therapy in Tyrosine Hydroxylase Deficiency.Movement disorders clinical practice · 2025Article
- Expert consensus on the off-label use of drugs for pediatric rare diseases in China (2025 edition).Translational pediatrics · 2025Review
- A multicenter study on clinico-epidemiological profile of phenylketonuria in Egyptian children.Scientific reports · 2025Article
- The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.Orphanet journal of rare diseases · 2025Article
- Trial Readiness: Understanding the Natural History of Rare Diseases.Journal of inherited metabolic disease · 2025Review
- Tetrahydrobiopterin enhances regulatory T- and mast cell proliferation and alters cytokines expression in a murine heart transplant model.Scientific reports · 2025Article
- Personalized Genotype-Based Approach for Treatment of Phenylketonuria.Journal of inherited metabolic disease · 2025Article
- Metabolomics and Lipidomics Explore Phenotype-Specific Molecular Signatures for Phenylketonuria.International journal of molecular sciences · 2025Article
28 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
31 authors.
Thomas OpladenDivision of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany. Thomas.Opladen@med.uni-heidelberg.de.
Eduardo López-LasoPediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain.
Elisenda Cortès-SaladelafontInborn errors of metabolism Unit, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
Toni S PearsonDepartment of Neurology, Washington University School of Medicine, St. Louis, USA.
H Serap SivriDepartment of Pediatrics, Section of Metabolism, Hacettepe University, Faculty of Medicine, 06100, Ankara, Turkey.
Yilmaz YildizDepartment of Pediatrics, Section of Metabolism, Hacettepe University, Faculty of Medicine, 06100, Ankara, Turkey.
Birgit AssmannDivision of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
Manju A KurianDevelopmental Neurosciences, UCL Great Ormond Street-Institute of Child Health, London, UK.
Vincenzo LeuzziUnit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Simon HealesNeurometabolic Unit, National Hospital, Queen Square, London, UK.
Simon PopeNeurometabolic Unit, National Hospital, Queen Square, London, UK.
Francesco PortaDepartment of Pediatrics, AOU Città della Salute e della Scienza, Torino, Italy.
Angeles García-CazorlaInborn errors of metabolism Unit, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
Tomáš HonzíkDepartment of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Roser PonsFirst Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece.
Luc RegalDepartment of Pediatric, Pediatric Neurology and Metabolism Unit, UZ Brussel, Brussels, Belgium.
Helly GoezDepartment of Pediatrics, University of Alberta Glenrose Rehabilitation Hospital, Edmonton, Canada.
Rafael ArtuchClinical biochemistry department, Institut de Recerca Sant Joan de Déu, CIBERER and MetabERN Hospital Sant Joan de Déu, Barcelona, Spain.
Georg F HoffmannDivision of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
Gabriella HorvathDepartment of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
Beat ThönyDivision of Metabolism, University Children's Hospital Zurich, Zürich, Switzerland.
Sabine Scholl-BürgiClinic for Pediatrics I, Medical University of Innsbruck, Anichstr 35, Innsbruck, Austria.
Alberto BurlinaU.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano, Padova, Italy.
Marcel M VerbeekDepartments of Neurology and Laboratory Medicine, Alzheimer Centre, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
Mario MastrangeloUnit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
Jennifer FriedmanUCSD Departments of Neuroscience and Pediatrics, Rady Children's Hospital Division of Neurology; Rady Children's Institute for Genomic Medicine, San Diego, USA.
Tessa WassenbergDepartment of Pediatric, Pediatric Neurology and Metabolism Unit, UZ Brussel, Brussels, Belgium.
Kathrin JeltschDivision of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
Jan KulhánekDepartment of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. Jan.Kulhanek@vfn.cz.
Oya Kuseyri HübschmannDivision of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
International Working Group on Neurotransmitter related Disorders (iNTD)
Funding
Department of Health RP-2016-07-019
Abstract
backgroundTetrahydrobiopterin (BH
conclusionAlthough the total body of evidence in the literature was mainly rated as low or very low, these consensus guidelines will help to harmonize clinical practice and to standardize and improve care for BH
Indexed as
DystoniaMetabolism, Inborn ErrorsPhenylketonuriasBiopterinsHumansBiopterinssapropterin6-pyruvoyltetrahydropterin synthase deficiencyBH4Consensus guidelinesDihydropteridine reductase deficiencyGuanosine triphosphate cyclohydrolase deficiencyHyperphenylalaninemiaiNTDNeurotransmitterSepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiencySIGNTetrahydrobiopterin deficiency
Identifiers
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Read underepoch 390
Registered trials
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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.