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. |
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| 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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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39676394 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Das+AM%22">Das AM</searchLink>; Hannover Medical School, Department of Paediatrics, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Ballhausen+D%22">Ballhausen D</searchLink>; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Haas+D%22">Haas D</searchLink>; Medical Faculty, Center for Pediatric and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Häberle+J%22">Häberle J</searchLink>; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Hagedorn+T%22">Hagedorn T</searchLink>; German Patients Association for PKU and Allied Metabolic Disorders, Deutsche Interessengemeinschaft Phenylketonurie und verwandte angeborene Stoffwechselstörungen (DIG PKU) e.V, Fürth, Germany.<br /><searchLink fieldCode="AU" term="%22Janson-Mutsaerts+C%22">Janson-Mutsaerts C</searchLink>; German Patients Association for PKU and Allied Metabolic Disorders, Deutsche Interessengemeinschaft Phenylketonurie und verwandte angeborene Stoffwechselstörungen (DIG PKU) e.V, Fürth, Germany.<br /><searchLink fieldCode="AU" term="%22Janzen+N%22">Janzen N</searchLink>; Metabolic Screening Laboratory, Screening-Labor Hannover, Hannover, Germany.; Hannover Medical School, Department of Clinical Chemistry, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Sander+J%22">Sander J</searchLink>; Metabolic Screening Laboratory, Screening-Labor Hannover, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Freisinger+P%22">Freisinger P</searchLink>; Department of Paediatrics, Klinik für Kinder- und Jugendmedizin, Kreiskliniken Reutlingen, Reutlingen, Germany.<br /><searchLink fieldCode="AU" term="%22Karall+D%22">Karall D</searchLink>; Clinic for Paediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Meyer+U%22">Meyer U</searchLink>; Hannover Medical School, Department of Paediatrics, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Mönch+E%22">Mönch E</searchLink>; Charité, University hospital, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Morlot+S%22">Morlot S</searchLink>; Department of Human Genetics, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Rosenbaum-Fabian+S%22">Rosenbaum-Fabian S</searchLink>; Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre-University of Freiburg, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Scholl-Bürgi+S%22">Scholl-Bürgi S</searchLink>; Clinic for Paediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Vom+Dahl+S%22">Vom Dahl S</searchLink>; Clinic for Gastroenterology, Hepatology and Infectiology, University Clinic Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Weinhold+N%22">Weinhold N</searchLink>; Department of Paediatrics, Charité University hospital, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Zeman+J%22">Zeman J</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, General Faculty Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Lange+K%22">Lange K</searchLink>; Department of Medical Psychology, Hannover Medical School, Hannover, Germany. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12824. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Review; Consensus Statement – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7910918 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2665 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201418955%22">01418955 </searchLink><i>NLM ISO Abbreviation: </i>J Inherit Metab Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39676394 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/jimd.12824 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e12824 Titles: – TitleFull: Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Das AM – PersonEntity: Name: NameFull: Ballhausen D – PersonEntity: Name: NameFull: Haas D – PersonEntity: Name: NameFull: Häberle J – PersonEntity: Name: NameFull: Hagedorn T – PersonEntity: Name: NameFull: Janson-Mutsaerts C – PersonEntity: Name: NameFull: Janzen N – PersonEntity: Name: NameFull: Sander J – PersonEntity: Name: NameFull: Freisinger P – PersonEntity: Name: NameFull: Karall D – PersonEntity: Name: NameFull: Meyer U – PersonEntity: Name: NameFull: Mönch E – PersonEntity: Name: NameFull: Morlot S – PersonEntity: Name: NameFull: Rosenbaum-Fabian S – PersonEntity: Name: NameFull: Scholl-Bürgi S – PersonEntity: Name: NameFull: Vom Dahl S – PersonEntity: Name: NameFull: Weinhold N – PersonEntity: Name: NameFull: Zeman J – PersonEntity: Name: NameFull: Lange K IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2025 Jan Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1573-2665 Numbering: – Type: volume Value: 48 – Type: issue Value: 1 Titles: – TitleFull: Journal of inherited metabolic disease Type: main |
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