1. Caring for Ukrainian refugee children with acute and chronic diseases. Issue 10336 (30th April 2022) Authors: Giżewska, Maria; van Wegberg, Annemiek M J; Maillot, François; Trefz, Friedrich; van Spronsen, Francjan J Journal: Lancet Issue: Volume 399:Issue 10336(2022) Page Start: 1689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. Issue 4 (9th August 2017) Authors: van Spronsen, Francjan J; Himmelreich, Nastassja; Rüfenacht, Véronique; Shen, Nan; Vliet, Danique van; Al-Owain, Mohammed; Ramzan, Khushnooda; Alkhalifi, Salwa M; Lunsing, Roelineke J; Heiner-Fokkema, Rebecca M; Rassi, Anahita; Gemperle-Britschgi, Corinne; Hoffmann, Georg F; Blau, Nenad; Thöny, Beat Journal: Journal of medical genetics Issue: Volume 55:Issue 4(2018) Page Start: 249 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Issues with European guidelines for phenylketonuria – Authors' reply. Issue 9 (September 2017) Authors: van Spronsen, Francjan J; van Wegberg, Annemiek M J; Ahring, Kirsten; Bélanger-Quintana, Amaya; Blau, Nenad; Bosch, Annet M; Burlina, Alberto; Campistol, Jaime; Feillet, Francois; Giżewska, Maria; Huijbregts, Stephan C; Kearney, Shauna; Leuzzi, Vincenzo; Maillot, Francois; Muntau, Ania C; Trefz, ... Journal: Lancet Issue: Volume 5:Issue 9(2017) Page Start: 683 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Key European guidelines for the diagnosis and management of patients with phenylketonuria. Issue 9 (September 2017) Authors: van Spronsen, Francjan J; van Wegberg, Annemiek MJ; Ahring, Kirsten; Bélanger-Quintana, Amaya; Blau, Nenad; Bosch, Annet M; Burlina, Alberto; Campistol, Jaime; Feillet, Francois; Giżewska, Maria; Huijbregts, Stephan C; Kearney, Shauna; Leuzzi, Vincenzo; Maillot, Francois; Muntau, Ania C; Trefz, F... Journal: Lancet Issue: Volume 5:Issue 9(2017) Page Start: 743 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Phenylketonuria: Brain Phenylalanine Concentrations Relate Inversely to Cerebral Protein Synthesis. Issue 2 (February 2015) Authors: de Groot, Martijn J; Sijens, Paul E; Reijngoud, Dirk-Jan; Paans, Anne M; van Spronsen, Francjan J Journal: Journal of cerebral blood flow & metabolism Issue: Volume 35:Issue 2(2015) Page Start: 200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines. Issue 3 (4th September 2019) Authors: Leuzzi, Vincenzo; Chiarotti, Flavia; Nardecchia, Francesca; van Vliet, Danique; van Spronsen, Francjan J Journal: Journal of medical genetics Issue: Volume 57:Issue 3(2020) Page Start: 145 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗