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

• Asıl Yazarlar: Lizbeth López-Mejía (Yazar), Sara Guillén-Lopez (Yazar), Marcela Vela-Amieva (Yazar), Rosalía Santillán-Martínez (Yazar), Melania Abreu (Yazar), María Dolores González-Herrra (Yazar), Rubicel Díaz-Martínez (Yazar), Juan Gaspar Reyes-Magaña (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2024-02-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

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...