Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.

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Title: Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.
Authors: Das AM; Hannover Medical School, Department of Paediatrics, Hannover, Germany., Ballhausen D; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Haas D; Medical Faculty, Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Hagedorn T; German Patients Association for PKU and Allied Metabolic Disorders, Deutsche Interessengemeinschaft Phenylketonurie und verwandte angeborene Stoffwechselstörungen (DIG PKU) e.V, Fürth, Germany., Janson-Mutsaerts C; German Patients Association for PKU and Allied Metabolic Disorders, Deutsche Interessengemeinschaft Phenylketonurie und verwandte angeborene Stoffwechselstörungen (DIG PKU) e.V, Fürth, Germany., Janzen N; Metabolic Screening Laboratory, Screening-Labor Hannover, Hannover, Germany.; Hannover Medical School, Department of Clinical Chemistry, Hannover, Germany., Sander J; Metabolic Screening Laboratory, Screening-Labor Hannover, Hannover, Germany., Freisinger P; Department of Paediatrics, Klinik für Kinder- und Jugendmedizin, Kreiskliniken Reutlingen, Reutlingen, Germany., Karall D; Clinic for Paediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Meyer U; Hannover Medical School, Department of Paediatrics, Hannover, Germany., Mönch E; Charité, University hospital, Berlin, Germany., Morlot S; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Rosenbaum-Fabian S; Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre-University of Freiburg, Freiburg, Germany., Scholl-Bürgi S; Clinic for Paediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Vom Dahl S; Clinic for Gastroenterology, Hepatology and Infectiology, University Clinic Düsseldorf, Düsseldorf, Germany., Weinhold N; Department of Paediatrics, Charité University hospital, Berlin, Germany., Zeman J; Department of Paediatrics and Inherited Metabolic Disorders, General Faculty Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic., Lange K; Department of Medical Psychology, Hannover Medical School, Hannover, Germany.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12824.
Publication Type: Journal Article; Review; Consensus Statement
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1573-2665
DOI:10.1002/jimd.12824