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classical phenylketonuria
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
PAH
PTS
GCH1
QDPR
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
MODULE_78
MODULE_235
MODULE_40
aromatic amino acid family metabolic process
Phenylalanine-4-hydroxylase, tetrameric form
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Autosomal recessive hereditary disorder
OMIM - Congenital disorder
OMIM - Disorder of amino acid metabolism
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Literature
Most Relevant Literature
State-of-the-art 2023 on gene therapy for phenylketonuria.
Management of phenylketonuria in European PKU centres remains heterogeneous.
Genetic etiology and clinical challenges of phenylketonuria.
Targeting phenylalanine assemblies as a prospective disease-modifying therapy for phenylketonuria.
Allelic phenotype prediction of phenylketonuria based on the machine learning method.
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Clinical Trials
Most Relevant Clinical Trials
Moderate Intensity Exercise and Phenylketonuria
Phenylketonuria and Hyperphenylalaninemia Nutrition Study
The Effects of Sapropterin Dihydrochloride Supplementation on in Vivo Redox Status in Patients With …
Behavioral Effects of Kuvan in Children With Mild Phenylketonuria
Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development…
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