Hypomorphic SI genetic variants are associated with childhood chronic loose stools

OBJECTIVE: The SI gene encodes the sucrase-isomaltase enzyme, a disaccharidase expressed in the intestinal brush border. Hypomorphic SI variants cause recessive congenital sucrase-isomaltase deficiency (CSID) and related gastrointestinal (GI) symptoms. Among children presenting with chronic, idiopat...

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Detalles Bibliográficos
Autores principales: Chumpitazi, Bruno P., Lewis, Jeffery, Cooper, Derick, D’Amato, Mauro, Lim, Joel, Gupta, Sandeep, Miranda, Adrian, Terry, Natalie, Mehta, Devendra, Scheimann, Ann, O’Gorman, Molly, Tipnis, Neelesh, Davies, Yinka, Friedlander, Joel, Smith, Heather, Punati, Jaya, Khlevner, Julie, Setty, Mala, Di Lorenzo, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239456/
https://www.ncbi.nlm.nih.gov/pubmed/32433684
http://dx.doi.org/10.1371/journal.pone.0231891

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239456/
https://www.ncbi.nlm.nih.gov/pubmed/32433684
http://dx.doi.org/10.1371/journal.pone.0231891

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