A rare case of fructose-1, 6-bisphosphatase deficiency: Clinical features in a pediatric patient
Fructose-1, 6- bisphosphatase deficiency is a rare autosomal recessive inborn error of fructose metabolism which mainly affects gluconeogenesis. It often presents with ketotic hypoglycemia and lactic acidosis, with hyperventilation. The disease has a high mortality rate when undiagnosed.Here we repo...
Tallennettuna:
| Päätekijät: | , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Elsevier
2024-12-01
|
| Sarja: | Molecular Genetics and Metabolism Reports |
| Aiheet: | |
| Linkit: | http://www.sciencedirect.com/science/article/pii/S221442692400096X |
| Tagit: |
Ei tageja, Lisää ensimmäinen tagi!
|