ReviewInternational journal of health sciences
Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.
Review in International journal of health sciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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
12 citing papers in PubMed, 73 citations in OpenAlex.
- Toxicity spectrum of pegvaliase: A pharmacovigilance analysis using the FAERS database.Orphanet journal of rare diseases · 2025Article
- Metabolomic Analysis and Biochemical Profiling of Cadmium-Induced Metabolic Impairment and Its Amelioration by Resveratrol.Bioengineering (Basel, Switzerland) · 2024Article
- Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations.Clinical case reports · 2024Article
- A Rare Combination of Compound Heterozygous Mutations in theAdvanced biomedical research · 2024Article
- Article
- Genetic etiology and clinical challenges of phenylketonuria.Human genomics · 2022Review
- Chiral fluorescent sensor based on HRSC advances · 2022Article
- Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.Molecular genetics & genomic medicine · 2021Article
- Genotype-phenotype correlations and BHMolecular genetics & genomic medicine · 2019Article
- The genetic basis of disease.Essays in biochemistry · 2018Review
- A comprehensive in silico characterization of bacterial signal peptides for the excretory production of3 Biotech · 2018Article
- Epidemiology of Hyperphenylalaninemia: A Systematic Review and Meta-Analysis.Sage open pediatricsReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Disorders of protein metabolism are the most common diseases among discovered inherited metabolic disorders. Phenylketonuria (PKU), a relatively common disorder that is responsive to treatment, is an inherited autosomal recessive disorder caused by a deficiency in phenylalanine hydroxylase (PAH) or one of several enzymes mediating biosynthesis or regeneration of the PAH cofactor tetrahydrobiopterin. The objective of this review is to discuss therapeutic strategies that have recently emerged for curing patients with PKU, which have demonstrated promising improvements in managing these patients. Data sourcing included a systematic literature review of PubMed with a focus on emerging knowledge pertaining to this well-studied disease. Recent advances in laboratory diagnosis and therapeutic strategies were described. Collectively, promising and rapid enhancements in neonatal diagnostic technologies and recently emerged therapeutic strategies are paving the way for early diagnosis and treating many inborn errors of metabolism, such as PKU.
Indexed as
Identifiers
29114196PMC5669513W2912723919What 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.