View in EDS HTML Full Text PDF Full Text

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

Saved in:
Bibliographic Details
Title: Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
Authors: Reischl-Hajiabadi AT; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Schnabel E; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Gleich F; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Mengler K; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Lindner M; University Children's Hospital, Frankfurt, Germany., Burgard P; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Posset R; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Lommer-Steinhoff S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany., Thimm E; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Freisinger P; Children's Hospital Reutlingen, Klinikum am Steinenberg Reutlingen, Reutlingen, Germany., Hennermann JB; Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany., Krämer J; Department of Pediatric and Adolescent Medicine, Medical School, Ulm University, Ulm, Germany., Gramer G; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lenz D; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Christ S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Hörster F; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Hoffmann GF; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Garbade SF; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Kölker S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany., Mütze U; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 674-689. Date of Electronic Publication: 2024 Apr 02.
Publication Type: Journal Article; Observational Study; Multicenter Study; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic 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: 38563533
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Reischl-Hajiabadi+AT%22">Reischl-Hajiabadi AT</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Schnabel+E%22">Schnabel E</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Gleich+F%22">Gleich F</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Mengler+K%22">Mengler K</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Lindner+M%22">Lindner M</searchLink>; University Children's Hospital, Frankfurt, Germany.<br /><searchLink fieldCode="AU" term="%22Burgard+P%22">Burgard P</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Posset+R%22">Posset R</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Lommer-Steinhoff+S%22">Lommer-Steinhoff S</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Grünert+SC%22">Grünert SC</searchLink>; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany.<br /><searchLink fieldCode="AU" term="%22Thimm+E%22">Thimm E</searchLink>; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Freisinger+P%22">Freisinger P</searchLink>; Children's Hospital Reutlingen, Klinikum am Steinenberg Reutlingen, Reutlingen, Germany.<br /><searchLink fieldCode="AU" term="%22Hennermann+JB%22">Hennermann JB</searchLink>; Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany.<br /><searchLink fieldCode="AU" term="%22Krämer+J%22">Krämer J</searchLink>; Department of Pediatric and Adolescent Medicine, Medical School, Ulm University, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Gramer+G%22">Gramer G</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Lenz+D%22">Lenz D</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Christ+S%22">Christ S</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Hörster+F%22">Hörster F</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Hoffmann+GF%22">Hoffmann GF</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Garbade+SF%22">Garbade SF</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Kölker+S%22">Kölker S</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Mütze+U%22">Mütze U</searchLink>; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Child Neurology and Metabolic Medicine, Heidelberg, Germany.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 674-689. <i>Date of Electronic Publication: </i>2024 Apr 02.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Observational Study; Multicenter Study; Research Support, Non-U.S. Gov't
– 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-Electronic <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=38563533
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/jimd.12731
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 674
    Titles:
      – TitleFull: Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Reischl-Hajiabadi AT
      – PersonEntity:
          Name:
            NameFull: Schnabel E
      – PersonEntity:
          Name:
            NameFull: Gleich F
      – PersonEntity:
          Name:
            NameFull: Mengler K
      – PersonEntity:
          Name:
            NameFull: Lindner M
      – PersonEntity:
          Name:
            NameFull: Burgard P
      – PersonEntity:
          Name:
            NameFull: Posset R
      – PersonEntity:
          Name:
            NameFull: Lommer-Steinhoff S
      – PersonEntity:
          Name:
            NameFull: Grünert SC
      – PersonEntity:
          Name:
            NameFull: Thimm E
      – PersonEntity:
          Name:
            NameFull: Freisinger P
      – PersonEntity:
          Name:
            NameFull: Hennermann JB
      – PersonEntity:
          Name:
            NameFull: Krämer J
      – PersonEntity:
          Name:
            NameFull: Gramer G
      – PersonEntity:
          Name:
            NameFull: Lenz D
      – PersonEntity:
          Name:
            NameFull: Christ S
      – PersonEntity:
          Name:
            NameFull: Hörster F
      – PersonEntity:
          Name:
            NameFull: Hoffmann GF
      – PersonEntity:
          Name:
            NameFull: Garbade SF
      – PersonEntity:
          Name:
            NameFull: Kölker S
      – PersonEntity:
          Name:
            NameFull: Mütze U
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 07
              Text: 2024 Jul
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1573-2665
          Numbering:
            – Type: volume
              Value: 47
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Journal of inherited metabolic disease
              Type: main
ResultId 1