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Novel Mutation in the SLC5A1 Gene Causing Glucose-Galactose Malabsorption: First Confirmed Case From Central America

Congenital glucose-galactose malabsorption is a rare cause of life-threatening diet-induced diarrhea in infants. Mutations in the SLC5A1 gene, which encodes for the sodium-dependent glucose transporter, result in large-volume diarrhea due to aberrant glucose and galactose transport across the intest...

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Detalles Bibliográficos
Autores principales: Katz, Daphna T., Curia, Suzzette, Fifi, Amanda C., Febo-Rodriguez, Liz, Llanos-Chea, Alejandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10684165/
https://www.ncbi.nlm.nih.gov/pubmed/38034445
http://dx.doi.org/10.1097/PG9.0000000000000390