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April 10, 2024

[Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene].

Qinghua Zhang Xuan Feng Xing Wang Furong Liu Bingbo Zhou Chuan Zhang Yupei Wang Jingyun Shi Shengju Hao Hui Ling Bin Yi

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Abstract

To analyze the clinical phenotype and genotypes of two children with Carnitine-acylcarnitine translocase deficiency (CACTD).

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Cite This Study

Zhang et al. (2024) studied this question.

synapsesocial.com/papers/68e6fb90b6db643587675e89 https://doi.org/10.3760/cma.j.cn511374-20220721-00482

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency2024
2Post-mortem diagnosis of CACT deficiency with a novel SLC25A20 variantOriginal Research · 2026
3Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic formcase_series · 2023 · 3 citations
4Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiencyOriginal Research · 2010 · 75 citations
5Diagnostic Challenges in the Myopathic Variant of Carnitine Palmitoyltransferase II Deficiency: A Case Report2024

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