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Molecular Genetics and Metabolism|May 16, 2025
European guidelines on diagnosis and treatment of phenylketonuria: First revisionA M J van Wegberg, A MacDonald, K Ahring, et al.European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology|December 6, 2016
Intraoperative ultrasound guidance in breast-conserving surgery shows superiority in oncological outcome, long-term cosmetic and patient-reported outcomes: Final outcomes of a randomized controlled trial (COBALT)J H Volders, M H Haloua, N M A Krekel, et al.Journal of Inherited Metabolic Disease|April 24, 2026
Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic StrategiesM I Mendes, D E Smith, V Spek, et al.Molecular Genetics and Metabolism|February 21, 2021
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countriesR A F Evers, A M J van Wegberg, K Ahring, et al.Clinical Nutrition (Edinburgh, Scotland)|January 16, 2021
High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcomeF Molema, H A Haijes, M C Janssen, et al.Molecular Genetics and Metabolism|October 15, 2011
The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: evaluation of protocol and influence of baseline phenylalanine concentrationK Anjema, G Venema, F C Hofstede, et al.Orphanet Journal of Rare Diseases|April 29, 2019
The natural history of classic galactosemia: lessons from the GalNet registryM E Rubio-Gozalbo, M Haskovic, A M Bosch, et al.Pageof 10