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Updated: Sep 5, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
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[Clinical features and genetic variants of a case with carnitine palmitoyltransferase 1A deficiency]

Dongyang Hong1, Yanyun Wang, Yun Sun

  • 1Genetic Medicine Center, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University (Nanjing Maternal and Child Health Hospital), Nanjing, Jiangsu 210004, China. jiangzhang784@163.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|July 10, 2022
PubMed
Abstract

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