Gaucher1

Jessica Sabljak1, Oliver Heath2, Rebecca Halligan2

  • 1Department of General Medicine, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia.

BMJ case reports
|September 29, 2023
PubMed
概括

这份病例报告强调了高氏病1型,一种罕见的代谢障碍. 非典型的骨髓发现最初导致了诊断的不确定性,强调了对Gaucher病诊断进行仔细评估的必要性.