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

BACKGROUND: 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 to attention because of chronic diarrhea and nutritional...

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Detalles Bibliográficos
Autores principales: Belmont, John W, Reid, Barbara, Taylor, William, Baker, Susan S, Moore, Warren H, Morriss, Michael C, Podrebarac, Susan M, Glass, Nancy, Schwartz, I David
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2002
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC111192/
https://www.ncbi.nlm.nih.gov/pubmed/12014995
http://dx.doi.org/10.1186/1471-2431-2-4

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