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...
محفوظ في:
| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , , , , , |
| منشور في: |
2025
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| الموضوعات: | |
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