Newborn screening: A disease-changing intervention for glutaric aciduria type 1-Reference-Cited by-同舟云学术

Newborn screening: A disease-changing intervention for glutaric aciduria type 1

Published:2018-04-30 Issue:5 Volume:83 Page:970-979
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Boy Nikolas¹,Mengler Katharina¹,Thimm Eva²,Schiergens Katharina A.³,Marquardt Thorsten⁴,Weinhold Natalie⁵,Marquardt Iris⁶,Das Anibh M.⁷,Freisinger Peter⁸,Grünert Sarah C.⁹,Vossbeck Judith¹⁰,Steinfeld Robert¹¹,Baumgartner Matthias R.¹²,Beblo Skadi¹³,Dieckmann Andrea¹⁴,Näke Andrea¹⁵,Lindner Martin¹⁶,Heringer Jana¹,Hoffmann Georg F.¹,Mühlhausen Chris¹⁷,Maier Esther M.³,Ensenauer Regina²,Garbade Sven F.¹,Kölker Stefan¹

Affiliation:

1. Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine; University Hospital Heidelberg; Heidelberg Germany

2. Division of Experimental Pediatrics and Metabolism, Department of General Pediatrics; Neonatology, and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf; Düsseldorf Germany

3. Dr von Hauner Children's Hospital; Ludwig Maximilian University; Munich Germany

4. Department of General Pediatrics; Metabolic Diseases, University Children's Hospital Münster; Münster Germany

5. Charité-Universitätsmedizin Berlin, Corporate Member of Free University Berlin, Free University of Berlin, Humboldt University of Berlin, and Berlin Institute of Health, Center for Chronically Sick Children; Berlin Germany

6. Department of Child Neurology; Children's Hospital Oldenburg; Oldenburg Germany

7. Department of Pediatrics; Pediatric Metabolic Medicine, Hannover Medical School; Hannover Germany

8. Children's Hospital Reutlingen; Reutlingen Germany

9. Department of General Pediatrics, Adolescent Medicine, and Neonatology, Faculty of Medicine; Medical Center, University of Freiburg; Freiburg Germany

10. Department of Pediatric and Adolescent Medicine; Ulm University Medical School; Ulm Germany

11. Department of Pediatrics and Pediatric Neurology; University Medical Center; Göttingen Germany

12. Division of Metabolism and Children's Research Center; University Children's Hospital Zurich; Zurich Switzerland

13. Department of Women and Child Health, Hospital for Children and Adolescents; Center for Pediatric Research Leipzig, University Hospitals, University of Leipzig; Leipzig Germany

14. Center for Inborn Metabolic Disorders, Department of Neuropediatrics; Jena University Hospital; Jena Germany

15. Children's Hospital Carl Gustav Carus; Technical University Dresden; Dresden Germany

16. Division of Pediatric Neurology; University Children's Hospital Frankfurt; Frankfurt Germany

17. University Children's Hospital, University Medical Centre Hamburg-Eppendorf; Hamburg Germany

Funder

German Ministry of Education and Research

Kindness for Kids Foundation

European Union

Dietmar Hopp Stiftung

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference51 articles.

1. Use of guidelines improves the neurological outcome in glutaric aciduria type I;Heringer;Ann Neurology,2010

2. Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1;Kyllerman;Eur J Paediatr Neurol,2004

3. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency;Kolker;Pediatr Res,2006

4. Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct;Busquets;Pediatr Res,2000

5. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency;Hoffmann;Neuropediatrics,1996

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