Issues with European guidelines for phenylketonuria

Affiliations

¹ Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, D-69120 Heidelberg, Germany. Electronic address: Peter.Burgard@med.uni-heidelberg.de.
² University Center for Rare Diseases, International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
³ Centre des Maladies Moléculaires, Service de Médecine Génétique, CHUV BT-02-252, Lausanne, Switzerland.
⁴ Centre for Paediatric and Adolescent Medicine, Johannes Gutenberg-Universität Mainz, Villa, Metabolica, Mainz, Germany.
⁵ Division of Clinical Endocrinology & Metabolism, Academic Medical Center, Amsterdam, Netherlands.
⁶ Clinic for Pediatrics I, Medical University Innsbruck, Inherited Metabolic Disorders, Innsbruck, Austria.
⁷ Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
⁸ Dr von Hauner Children's Hospital, University of Munich, Munich, Germany.
⁹ Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
¹⁰ Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, D-69120 Heidelberg, Germany.
¹¹ University Children's Hospital Frankfurt, Frankfurt am Main, Germany.
¹² Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

Comment

Peter Burgard et al. Lancet Diabetes Endocrinol. 2017 Sep.

. 2017 Sep;5(9):681-683.

doi: 10.1016/S2213-8587(17)30201-2.

¹ Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, D-69120 Heidelberg, Germany. Electronic address: Peter.Burgard@med.uni-heidelberg.de.
² University Center for Rare Diseases, International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
³ Centre des Maladies Moléculaires, Service de Médecine Génétique, CHUV BT-02-252, Lausanne, Switzerland.
⁴ Centre for Paediatric and Adolescent Medicine, Johannes Gutenberg-Universität Mainz, Villa, Metabolica, Mainz, Germany.
⁵ Division of Clinical Endocrinology & Metabolism, Academic Medical Center, Amsterdam, Netherlands.
⁶ Clinic for Pediatrics I, Medical University Innsbruck, Inherited Metabolic Disorders, Innsbruck, Austria.
⁷ Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
⁸ Dr von Hauner Children's Hospital, University of Munich, Munich, Germany.
⁹ Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
¹⁰ Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, D-69120 Heidelberg, Germany.
¹¹ University Children's Hospital Frankfurt, Frankfurt am Main, Germany.
¹² Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

No abstract available

Comment in

Issues with European guidelines for phenylketonuria - Authors' reply.
van Spronsen FJ, van Wegberg AMJ, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, MacDonald A. van Spronsen FJ, et al. Lancet Diabetes Endocrinol. 2017 Sep;5(9):683-684. doi: 10.1016/S2213-8587(17)30202-4. Lancet Diabetes Endocrinol. 2017. PMID: 28842159 No abstract available.

Key European guidelines for the diagnosis and management of patients with phenylketonuria.
van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A. van Spronsen FJ, et al. Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10. Lancet Diabetes Endocrinol. 2017. PMID: 28082082 Review.