Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis

• Váldodahkkit: Morriss Michael C (Dahkki), Moore Warren H (Dahkki), Baker Susan S (Dahkki), Taylor William (Dahkki), Reid Barbara (Dahkki), Belmont John W (Dahkki), Podrebarac Susan M (Dahkki), Glass Nancy (Dahkki), Schwartz I David (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2002-04-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Disaccharide Intolerance Type I (Mendelian Interance in Man database: *222900) is a rare inborn error of metabolism resulting from mutation in sucrase-isomaltase (Enzyme Catalyzed 3.2.1.48). Usually, infants with SI deficiency come t...