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March 3, 2026Clinica Chimica Acta0 citations

Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China

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XTXiangwen TuGanzhou People's HospitalFZFeng ZhangGanzhou People's HospitalJCJunkun Chen

Key Points

  • Evidence shows unique genetic mutation distribution affecting metabolic characteristics in the population.
  • A total of 25 distinct mutations were identified in patients from the Ganzhou area, emphasizing genetic diversity.
  • Analysis of sample data revealed associations between specific mutations and clinical metabolic traits in patients.
  • These findings may inform localized screening and treatment strategies for primary carnitine deficiency.
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Cite This Study

Tu et al. (2026) studied this question.

synapsesocial.com/papers/69a75e2dc6e9836116a28931https://doi.org/10.1016/j.cca.2026.120873
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