一个患有复合异构合致病原性APOA5变体的儿童的严重家族高甘油三血症:病例报告和治疗挑战

Nikola Ilić1, Jovana Krstić1, Dimitrije Cvetković2

  • 1Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", 11070 Belgrade, Serbia.

概括

对标准治疗有抗性的儿童的严重家族性高甘油三血症 (FHTG) 强调了早期基因检测的必要性. 这一案例凸显了单一性FHTG目前治疗方法的局限性.

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