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A Diagnostic Quagmire: PFIC5 Presenting as a Rare Cause of Neonatal Cholestasis
Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive disorders defined by defects in bile excretion and transport. We describe a 6-week-old boy from Micronesia presenting with failure to thrive and jaundice. His diagnostic workup was remarkable for direct hyp...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8049156/ https://www.ncbi.nlm.nih.gov/pubmed/33869650 http://dx.doi.org/10.14309/crj.0000000000000558 |