ArticlePediatric research2018
Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem.
Article in Pediatric research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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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.
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Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- SLC6A19 inhibition facilitates urinary neutral amino acid excretion and lowers plasma phenylalanine.JCI insight · 2024Article
- Modeling the cognitive effects of diet discontinuation in adults with phenylketonuria (PKU) using pegvaliase therapy in PAH-deficient mice.Molecular genetics and metabolism · 2022Article
- A universal strategy for AAV delivery of base editors to correct genetic point mutations in neonatal PKU mice.Molecular therapy. Methods & clinical development · 2022Article
- Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population.Orphanet journal of rare diseases · 2021Article
- Engineering Organoids forFrontiers in molecular neuroscience · 2021Review
- Long-Term Metabolic Correction of Phenylketonuria by AAV-Delivered Phenylalanine Amino Lyase.Molecular therapy. Methods & clinical development · 2020Article
- AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria.Molecular therapy. Methods & clinical development · 2020Article
- Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BackgroundUntreated phenylketonuria (PKU), one of the most common human genetic disorders, usually results in mental retardation. Although a protein-restricted artificial diet can prevent retardation, dietary compliance in adults is often poor. In pregnant PKU women, noncompliance can result in maternal PKU syndrome, where high phenylalanine (Phe) levels cause severe fetal complications. Enzyme substitution therapy using Phe ammonia lyase (PAL) corrects PKU in BTBR Phe hydroxylase (Pah
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Registered trials
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