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...

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Vydáno v:Clin Case Rep
Hlavní autoři: Comegna, Marika, Amato, Felice, Liguori, Renato, Berni Canani, Roberto, Spagnuolo, Maria Immacolata, Morroni, Manrico, Guarino, Alfredo, Castaldo, Giuseppe
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2018
Témata:
Case Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6293129/
https://ncbi.nlm.nih.gov/pubmed/30564347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1879
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