Disease spectrum and genetic profile of high-risk children with severe carnitine deficiency

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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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Published on: March 23, 2022

Jing Liu1, Zhenhua Xie1, Mengjun Xiao1

  • 1Henan Key Laboratory of Genetic and Developmental Disorders, Henan Children's Neurodevelopment Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, 450018, China.

Pediatrics and Neonatology
|October 6, 2026
PubMed
Abstract

Keywords:
Carnitine deficiencyHigh-risk childrenInherited metabolic diseasesMass spectrometryPrimary carnitine deficiency

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