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

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第一作者: Anibh M,Das
第一单位: Hannover Medical School, Department of Paediatrics, Hannover, Germany.
作者单位: Hannover Medical School, Department of Paediatrics, Hannover, Germany. [1] Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. [2] Medical Faculty, Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany. [3] Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland. [4] German Patients Association for PKU and Allied Metabolic Disorders, Deutsche Interessengemeinschaft Phenylketonurie und verwandte angeborene Stoffwechselstörungen (DIG PKU) e.V, Fürth, Germany. [5] Metabolic Screening Laboratory, Screening-Labor Hannover, Hannover, Germany.;Hannover Medical School, Department of Clinical Chemistry, Hannover, Germany. [6] Metabolic Screening Laboratory, Screening-Labor Hannover, Hannover, Germany. [7] Department of Paediatrics, Klinik für Kinder- und Jugendmedizin, Kreiskliniken Reutlingen, Reutlingen, Germany. [8] Clinic for Paediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria. [9] Charité, University hospital, Berlin, Germany. [10] Department of Human Genetics, Hannover Medical School, Hannover, Germany. [11] Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre-University of Freiburg, Freiburg, Germany. [12] Clinic for Gastroenterology, Hepatology and Infectiology, University Clinic Düsseldorf, Düsseldorf, Germany. [13] Department of Paediatrics, Charité University hospital, Berlin, Germany. [14] Department of Paediatrics and Inherited Metabolic Disorders, General Faculty Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic. [15] Department of Medical Psychology, Hannover Medical School, Hannover, Germany. [16]
DOI 10.1002/jimd.12824
PMID 39676394
发布时间 2025-01-15
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Journal of inherited metabolic disease

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