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Article

Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Aug 2017

Sun Yun, Wang Yan-Yun, Jiang Tao

Abstract excerpt

BACKGROUND: The objective of the study was to investigate clinical and gene mutation characteristics of primary carnitine deficiency (PCD) patients identified by newborn screening using tandem mass spectrometry (MS/MS). METHODS: Tandem mass spectrometry (MS/MS) was applied to screen inherited metabolic disease and seven patients with PCD were diagnosed among 62,568 samples. The SLC22A5 gene was detected by using...

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Identifiers

PMID: 28753539
DOI: 10.1515/jpem-2017-0002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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