Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency
Phosphomannomutase 2 deficiency congenital disorder of glycosylation (PMM2-CDG), the most prevalent N-glycosylation disease, is a multi-organ disease with marked clinical heterogeneity. Severe liver involvement is not a common find in these patients. A six-month-old girl was referred to the emergen...
Guardado en:
| Autores principales: | , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN PT |
| Publicado: |
Sociedade Portuguesa de Pediatria
2021
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/a8e59ae98ab040ada7075743f71c2eba |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|