Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms.
Metabolic liver diseases (MLD) are an important group of disorders presenting with neonatal cholestasis (NC). The spectrum of liver involvement is wide and the presumptive diagnosis is traditionally based on clinical and laboratory findings. Recently, next-generation sequencing (NGS) panels have eme...
| Publicado en: | European Journal of Pediatrics Vol. 178; no. 4; pp. 515 - 524 |
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| Autores principales: | , , , , |
| Formato: | Journal Article |
| Publicado: |
Springer Nature
Apr2019
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| Acceso en línea: | Ver este registro en EBSCOhost |