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Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene
Microvillous inclusion disease (MVID) typically appears with severe chronic diarrhea in the few days after birth and rapidly causes dehydration and metabolic acidosis. In this context, presenting two novel cases, we underline the crucial importance of mutation analysis for the diagnosis of this dise...
Autores principales: | Comegna, Marika, Amato, Felice, Liguori, Renato, Berni Canani, Roberto, Spagnuolo, Maria Immacolata, Morroni, Manrico, Guarino, Alfredo, Castaldo, Giuseppe |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293129/ https://www.ncbi.nlm.nih.gov/pubmed/30564347 http://dx.doi.org/10.1002/ccr3.1879 |
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