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...
Gardado en:
| Principais autores: | , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Elsevier
2024-12-01
|
| Series: | Molecular Genetics and Metabolism Reports |
| Assuntos: | |
| Acceso en liña: | http://www.sciencedirect.com/science/article/pii/S221442692400096X |
| Tags: |
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|