Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls t...
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to screen, due to its pathophysiology and wide clinical spectrum. To date, few countries screen newborns for PCD and struggle with hig...
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Full title
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France
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TN_cdi_doaj_primary_oai_doaj_org_article_91e0d434acbd4839ab25ed9955b28bf2
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_91e0d434acbd4839ab25ed9955b28bf2
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ISSN
2409-515X
E-ISSN
2409-515X
DOI
10.3390/ijns9010006
