Importance of genetic sequencing studies in managing chronic neonatal diarrhea: a case report of a novel variant in the glucose-galactose transporter SLC5A1

• Hoofdauteurs: Lizbeth López-Mejía (Auteur), Sara Guillén-Lopez (Auteur), Marcela Vela-Amieva (Auteur), Rosalía Santillán-Martínez (Auteur), Melania Abreu (Auteur), María Dolores González-Herrra (Auteur), Rubicel Díaz-Martínez (Auteur), Juan Gaspar Reyes-Magaña (Auteur)
• Formaat: Boek
• Gepubliceerd in: Frontiers Media S.A., 2024-02-01T00:00:00Z.
• Onderwerpen: article
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IntroductionCongenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder that primarily causes chronic intractable diarrhea. This study aims to describe the clinical history, laboratory profile, diagnostic workflow, and management of the first patient reported with CGGM i...