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

• Asıl Yazarlar: Morriss Michael C (Yazar), Moore Warren H (Yazar), Baker Susan S (Yazar), Taylor William (Yazar), Reid Barbara (Yazar), Belmont John W (Yazar), Podrebarac Susan M (Yazar), Glass Nancy (Yazar), Schwartz I David (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2002-04-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...