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Research 9 of 51

1. Man made disease: Clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study Molecular genetics and metabolism · 2013 · 13 citations
2. Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives Revue neurologique · 2012 · 1 citations
3. Widespread erythematous scaly eruption in an infant with phenylketonuria JDDG Journal der Deutschen Dermatologischen Gesellschaft · 2025
4. Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics Molecular Genetics and Metabolism Reports · 2021 · 14 citations
5. Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency OPAL (Open@LaTrobe) (La Trobe University) · 2016 · 2 citations
6. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria Genetics in Medicine · 2018 · 84 citations
7. Morphologische und biochemische untersuchungen am Haar bei gestörtem Aminosäurestoffwechsel Archives of Dermatological Research · 1976 · 4 citations
8. Role of Phenylalanine and Its Metabolites in Health and Neurological Disorders IntechOpen eBooks · 2020 · 38 citations
9. Hair Amino Acids: Normal Values and Results in Metabolic Errors Archives of disease in childhood · 1970 · 15 citations

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