Supplementary Material for: A case of hyperinsulinemic hypoglycemia associated with atypical Fanconi renal tubulopathy syndrome caused by an HNF4A variant

This case illustrates the challenges in the diagnosis of a rare disease with an intricate orientation, requiring an in-depth medical history review and a comprehensive series of laboratory tests with genetic confirmation. The patient presented with myoclonic jerks associated with hypoglycaemia and p...

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Номзүйн дэлгэрэнгүй
Үндсэн зохиолч: figshare admin karger (2628495) (author)
Бусад зохиолчид: Garriga-Edo S. (22688228) (author), Peris-Serra L. (22688231) (author), RíosDuro H. (22688234) (author), Giralt M. (6822407) (author), Díaz-Troyano N. (22688237) (author), Ferrer R. (22688240) (author), AntolínMate M. (22688243) (author), PérezDueñas B. (22688246) (author), Clemente M. (22688249) (author)
Хэвлэсэн: 2025
Нөхцлүүд:
Шошгууд: Шошго нэмэх
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!