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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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Enregistré dans:
Publié dans:BMC Pediatr
Auteurs principaux: Belmont, John W, Reid, Barbara, Taylor, William, Baker, Susan S, Moore, Warren H, Morriss, Michael C, Podrebarac, Susan M, Glass, Nancy, Schwartz, I David
Format: Artigo
Langue:Inglês
Publié: BMC 2002
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC111192/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12014995/
https://ncbi.nlm.nih.govhttps://doi.org/10.1186/1471-2431-2-4
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