Concepedia
Molecular Genetics and Metabolism · 2023 · 11 citations · 20 references
PharmacyPharmacotherapyOrganic Disease ManagementMetabolic EvaluationPhenylpropanoid MetabolismOverproduction Of PhenylalaninePhenylalanine Ammonia-lyase PathwayPhenylalanine Metabolism
20
The Genetic Landscape and Epidemiology of Phenylketonuria
Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 380 citations · Full text
Life Sciences, Genetics, Molecular Genetics +8
Neonatal screening in Europe; the situation in 2004
J.G. Loeber · Journal of Inherited Metabolic Disease · 2007 · 248 citations
Medicine, Pediatrics, Preventive Medicine +12
The effects of high phenylalanine concentrations on serotinin and catecholamine metabolism in the human brain
C. M. McKean · Brain Research · 1972 · 227 citations
Life Sciences, Neuroscience, Pharmacology +16
Living with Phenylketonuria: Lessons from the PKU community
Suzanne Ford, Mike O’Driscoll, Anita MacDonald · Molecular Genetics and Metabolism Reports · 2018 · 135 citations · Full text
Social Sciences, Pediatrics, Psychology +13
Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study
Deborah A. Bilder, Joyce A. Kobori, Jessica Cohen‐Pfeffer et al. · Molecular Genetics and Metabolism · 2017 · 131 citations · Full text
Medicine, Neurology, Psychiatry +17