Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns-Reference-Cited by-同舟云学术

Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns

Published:2022-09-16 Issue:1 Volume:64 Page:57-64
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Crefcoeur Loek L.¹²^ORCID,Heiner‐Fokkema M. Rebecca³^ORCID,Maase Rose E.⁴,Visser Gepke¹²,de Sain‐van der Velden Monique G. M.⁵^ORCID

Affiliation:

1. Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht The Netherlands

2. Division of Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam Amsterdam The Netherlands

3. Department of Laboratory Medicine University of Groningen, University Medical Center Groningen Groningen The Netherlands

4. Department Biologicals, Screening and Innovation Dutch National Institute for Public Health and the Environment Bilthoven The Netherlands

5. Section Metabolic Diagnostics, Department of Genetics University Medical Centre Utrecht Utrecht The Netherlands

Funder

ZonMw

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12334

Reference33 articles.

1. Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

2. Current status of newborn screening worldwide: 2015

3. Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level

4. Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening

5. Afkap/beslissingscriteria Neonatale screening. Rijksinstituut voor Volksgezondheid en Milieu (RIVM) Centrum Gezondheidsbescherming (GZB). Afdeling Biologische geneesmiddelen Screening en Innovatie (BSI).2020.https://webshare.zenya.work/lv3tvdk3gr61tbnx/Document.aspx. Published 2022. Updated January 27 2020. Accessed May 6 2022.

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