Article

Biochemical And Genetic Characteristics of Patients With Primary Carnitine Deficiency Identified Through Newborn Screening

2021-10-11

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Primary carnitine deficiency (PCD) is an autosomal recessive disorder of the carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited. This study aimed to investigate the biochemical and genetic characteristics of patients with PCD detected by NBS.<bold>Results: </bold>A total of 548...

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Literature Corpus work: 91a99f8d-63d2-5c1f-b1c3-ec7522877f1f
DOI: 10.21203/rs.3.rs-948430/v1

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