Molecular Genetics and Metabolism Reports

Living with Phenylketonuria: Lessons from the PKU community

Suzanne Ford, Mike O’Driscoll, Anita MacDonald · 2018 · 135 citations · Full text

Social Sciences, Pediatrics, Psychology +13

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening

Naoaki Shibata, Yuki Hasegawa, Kenji Yamada et al. · 2018 · 129 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +13

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

Michael Beck, Derralynn Hughes, Christoph Kampmann et al. · 2015 · 128 citations · Full text

Life Sciences, Biochemistry, Enzymology +5

Living with phenylketonuria in adulthood: The PKU ATTITUDE study

Chiara Cazzorla, Giulia Bensi, Giacomo Biasucci et al. · 2018 · 108 citations · Full text

Agriculture, Nutrition, Nutritional Sciences +16

Phenylketonuria (PKU): A problem solved?

Christine Brown, Uta Lichter‐Konecki · 2015 · 99 citations · Full text

Medicine, Pediatrics, Pharmacology +10