ReviewHuman gene therapy2019
State-of-the-Art 2019 on Gene Therapy for Phenylketonuria.
Review in Human gene therapy, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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
25 citing papers in PubMed, 40 citations in OpenAlex.
- Nutritional and Therapeutic Strategies in Paediatric Phenylketonuria: A Narrative Literature Review.Nutrients · 2026Review
- The Generation of an Induced Pluripotent Stem Cell Line from a Patient with Phenylketonuria.International journal of stem cells · 2025Article
- Therapeutic effect of histone deacetylase 6 inhibitor for a mouse model of phenylketonuria.Scientific reports · 2025Article
- Exploring cutting-edge approaches in diabetes care: from nanotechnology to personalized therapeutics.Naunyn-Schmiedeberg's archives of pharmacology · 2025Review
- Genetically humanized phenylketonuria mouse model as a testing tool for human genome editing in fertilized eggs.Journal of inherited metabolic disease · 2025Article
- Therapeutic Application and Structural Features of Adeno-Associated Virus Vector.Current issues in molecular biology · 2024Review
- Amino Acid Profile Alterations in Phenylketonuria: Implications for Clinical Practice.Metabolites · 2024Article
- Interaction of γ-Polyglutamic Acid/Polyethyleneimine/Plasmid DNA Ternary Complexes with Serum Components Plays a Crucial Role in Transfection in Mice.Pharmaceutics · 2024Article
- Design and Engineering of Light-Induced Base Editors Facilitating Genome Editing with Enhanced Fidelity.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- State-of-the-art 2023 on gene therapy for phenylketonuria.Journal of inherited metabolic disease · 2024Review
- Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.Disease models & mechanisms · 2023Article
- Mutational landscape of phenylketonuria in Iran.Journal of cellular and molecular medicine · 2023Review
- Review
- Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates.Molecular genetics and metabolism reports · 2022Article
- The Utility of Genomic Testing for Hyperphenylalaninemia.Journal of clinical medicine · 2022Review
- Clinical, genetic, and experimental research of hyperphenylalaninemia.Frontiers in genetics · 2022Review
- Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice.Frontiers in bioengineering and biotechnology · 2022Article
- Influencing Factors on the Use of Tetrahydrobiopterin in Patients with Phenylketonuria.Evidence-based complementary and alternative medicine : eCAM · 2022Article
- Therapeutic liver repopulation by transient acetaminophen selection of gene-modified hepatocytes.Science translational medicine · 2021Article
- A primer to gene therapy: Progress, prospects, and problems.Journal of inherited metabolic disease · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
Phenylketonuria (PKU) is considered to be a paradigm for a monogenic metabolic disorder but was never thought to be a primary application for human gene therapy due to established alternative treatment. However, somewhat unanticipated improvement in neuropsychiatric outcome upon long-term treatment of adults with PKU with enzyme substitution therapy might slowly change this assumption. In parallel, PKU was for a long time considered to be an excellent test system for experimental gene therapy of a Mendelian autosomal recessive defect of the liver due to an outstanding mouse model and the easy to analyze and well-defined therapeutic end point, that is, blood l-phenylalanine concentration. Lifelong treatment by targeting the mouse liver (or skeletal muscle) was achieved using different approaches, including (1) recombinant adeno-associated viral (rAAV) or nonviral naked DNA vector-based gene addition, (2) genome editing using base editors delivered by rAAV vectors, and (3) by delivering rAAVs for promoter-less insertion of the
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.