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American Academy of Pediatrics
Article

Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening

Ulrike Mütze, Sven F. Garbade, Gwendolyn Gramer, Martin Lindner, Peter Freisinger, Sarah Catharina Grünert, Julia Hennermann, Regina Ensenauer, Eva Thimm, Judith Zirnbauer, Michael Leichsenring, Florian Gleich, Friederike Hörster, Karina Grohmann-Held, Nikolas Boy, Junmin Fang-Hoffmann, Peter Burgard, Magdalena Walter, Georg F. Hoffmann and Stefan Kölker
Pediatrics November 2020, 146 (5) e20200444; DOI: https://doi.org/10.1542/peds.2020-0444
Ulrike Mütze
aDivision of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;
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Sven F. Garbade
aDivision of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;
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Gwendolyn Gramer
aDivision of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;
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Martin Lindner
bDivision of Pediatric Neurology, University Children’s Hospital Frankfurt, Frankfurt, Germany;
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Peter Freisinger
cChildren’s Hospital Reutlingen, Klinikum am Steinenberg Reutlingen, Reutlingen, Germany;
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Sarah Catharina Grünert
dDepartment of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany;
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Julia Hennermann
eVilla Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany;
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Regina Ensenauer
fDepartment of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children’s Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany;
gInstitute of Child Nutrition, Max Rubner-Institut, Karlsruhe, Germany;
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Eva Thimm
fDepartment of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children’s Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany;
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Judith Zirnbauer
hDepartment of Pediatric and Adolescent Medicine, Medical School, Ulm University, Ulm, Germany; and
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Michael Leichsenring
hDepartment of Pediatric and Adolescent Medicine, Medical School, Ulm University, Ulm, Germany; and
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Florian Gleich
aDivision of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;
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Friederike Hörster
aDivision of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;
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Karina Grohmann-Held
aDivision of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;
iCenter for Child and Adolescent Medicine, University Hospital Greifswald, Greifswald, Germany
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Nikolas Boy
aDivision of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;
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Junmin Fang-Hoffmann
aDivision of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;
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Peter Burgard
aDivision of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;
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Magdalena Walter
aDivision of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;
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Georg F. Hoffmann
aDivision of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;
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Stefan Kölker
aDivision of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;
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Article Information

vol. 146 no. 5 e20200444
DOI 
https://doi.org/10.1542/peds.2020-0444
PubMed 
33051224

Published By 
American Academy of Pediatrics
Print ISSN 
0031-4005
Online ISSN 
1098-4275
History 
  • Accepted July 16, 2020
  • Published online November 2, 2020.

Article Versions

  • previous version (October 13, 2020 - 00:05).
  • You are viewing the most recent version of this article.
Copyright & Usage 
Copyright © 2020 by the American Academy of Pediatrics

Author Information

  1. Ulrike Mütze, MDa,
  2. Sven F. Garbade, PhDa,
  3. Gwendolyn Gramer, MDa,
  4. Martin Lindner, MDb,
  5. Peter Freisinger, MDc,
  6. Sarah Catharina Grünert, MDd,
  7. Julia Hennermann, MDe,
  8. Regina Ensenauer, MDf,g,
  9. Eva Thimm, MDf,
  10. Judith Zirnbauer, MDh,
  11. Michael Leichsenring, MDh,
  12. Florian Gleicha,
  13. Friederike Hörster, MDa,
  14. Karina Grohmann-Held, MDa,i,
  15. Nikolas Boy, MDa,
  16. Junmin Fang-Hoffmann, MDa,
  17. Peter Burgard, PhDa,
  18. Magdalena Walter, PhDa,
  19. Georg F. Hoffmann, MDa, and
  20. Stefan Kölker, MDa
  1. aDivision of Child Neurology and Metabolic Medicine and Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany;
  2. bDivision of Pediatric Neurology, University Children’s Hospital Frankfurt, Frankfurt, Germany;
  3. cChildren’s Hospital Reutlingen, Klinikum am Steinenberg Reutlingen, Reutlingen, Germany;
  4. dDepartment of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany;
  5. eVilla Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany;
  6. fDepartment of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children’s Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany;
  7. gInstitute of Child Nutrition, Max Rubner-Institut, Karlsruhe, Germany;
  8. hDepartment of Pediatric and Adolescent Medicine, Medical School, Ulm University, Ulm, Germany; and
  9. iCenter for Child and Adolescent Medicine, University Hospital Greifswald, Greifswald, Germany
  1. Dr Mütze conceptualized and designed the study and the data collection instruments, coordinated and supervised data collection, evaluated and interpreted data, drafted the initial manuscript, reviewed and revised the final manuscript, had full access to all the data in the study, and had final responsibility for the decision to submit for publication; Dr Kölker conceptualized and designed the study and the data collection instruments, coordinated and supervised data collection, evaluated and interpreted data, drafted the initial manuscript, and reviewed and revised the final manuscript; Dr Garbade conducted the statistical analyses and critically reviewed and revised the manuscript for important intellectual content; Drs Lindner and Gramer designed the study, collected newborn screening and clinical data, and critically reviewed and revised the manuscript for important intellectual content; Mr Gleich conducted data collection and management and critically reviewed and revised the manuscript for important intellectual content; Drs Freisinger, Hennermann, Ensenauer, Leichsenring, Grünert, Thimm, and Zirnbauer collected the data at their study site and reviewed and critically revised the manuscript for important intellectual content; Drs Hörster, Grohmann-Held, and Boy collected data at the study center and reviewed and revised the manuscript critically for important intellectual content; Dr Fang-Hoffmann collected newborn screening data and reviewed and critically revised the manuscript for important intellectual content; Dr Burgard designed the study, collected clinical data, conducted psychological tests, and critically reviewed and revised the manuscript for important intellectual content; Dr Walter collected clinical data, conducted psychological tests, and critically reviewed and revised the manuscript for important intellectual content; Dr Hoffmann conceptualized and designed the study and critically reviewed and revised the manuscript for important intellectual content; and all authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

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Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening
Ulrike Mütze, Sven F. Garbade, Gwendolyn Gramer, Martin Lindner, Peter Freisinger, Sarah Catharina Grünert, Julia Hennermann, Regina Ensenauer, Eva Thimm, Judith Zirnbauer, Michael Leichsenring, Florian Gleich, Friederike Hörster, Karina Grohmann-Held, Nikolas Boy, Junmin Fang-Hoffmann, Peter Burgard, Magdalena Walter, Georg F. Hoffmann, Stefan Kölker
Pediatrics Nov 2020, 146 (5) e20200444; DOI: 10.1542/peds.2020-0444

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Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening
Ulrike Mütze, Sven F. Garbade, Gwendolyn Gramer, Martin Lindner, Peter Freisinger, Sarah Catharina Grünert, Julia Hennermann, Regina Ensenauer, Eva Thimm, Judith Zirnbauer, Michael Leichsenring, Florian Gleich, Friederike Hörster, Karina Grohmann-Held, Nikolas Boy, Junmin Fang-Hoffmann, Peter Burgard, Magdalena Walter, Georg F. Hoffmann, Stefan Kölker
Pediatrics Nov 2020, 146 (5) e20200444; DOI: 10.1542/peds.2020-0444
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