开发工具以促进遗传性果糖不耐症的诊断

Bianca Panis1,2,3, Lise E F Janssen4, Dirk J Lefeber5,6

  • 1Division of Genetic Metabolic Diseases, Department of Pediatrics Maastricht University Medical Center Maastricht The Netherlands.

JIMD reports
|September 13, 2023
PubMed
概括

现在,在成年人中诊断遗传性果糖不耐症 (HFI) 更容易了. 3天的食物日记和转林糖化分析有效地识别HFI,有助于更早的识别和管理.