Diagnosing lactase deficiency in three breaths

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Prevalence of lactase deficiency in British adults.

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Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)

BACKGROUND Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder of newborns. The diagnosis is challenging and based on clinical symptoms and low lactase activity in intestinal biopsy specimens. The disease is enriched in Finland but is also present in other parts of the world. Mutations encoding the lactase (LCT) gene have recently been shown to underlie CLD. The purpose of...

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ژورنال

عنوان ژورنال: European Journal of Clinical Nutrition

سال: 2011

ISSN: 0954-3007,1476-5640

DOI: 10.1038/ejcn.2010.287