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

Saved in:
Bibliographic Details
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
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39676394
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
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
ResultId 1