Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany-Reference-Cited by-同舟云学术

Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany

Published:2022-10-28 Issue:1 Volume:64 Page:114-120
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Murko Simona¹^ORCID,Aseman Asra Dadkhah¹,Reinhardt Friederike¹,Gramer Gwendolyn¹,Okun Jürgen Günther²,Mütze Ulrike²,Santer René¹

Affiliation:

1. Newborn Screening and Metabolic Laboratory, Department of Pediatrics University Medical Center Eppendorf Hamburg Germany

2. Division of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg University Hospital Heidelberg Germany

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12345

Reference20 articles.

1. Isovaleric acidemia: a new genetic defect of leucine metabolism.

2. Newborn Screening for Isovaleric Acidemia Using Tandem Mass Spectrometry: Data from 1.6 Million Newborns

3. Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

4. Annual Screening Reports of the German Society for Newborn Screening.https://www.screening‐dgns.de/reports.php(Download: August 8 2022).

5. Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme

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