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...
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Weitere Verfasser: | , , , , , , , , |
| Veröffentlicht: |
2025
|
| Schlagworte: | |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|