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Lactase Deficiency, Congenital

Known as: congenital lactase deficiency, Disaccharide Intolerance II, Alactasia, Congenital 
National Institutes of Health

Related topics

Related topics

8 relations
Autosomal recessive inheritanceDehydrationMetabolic acidosisNeonatal diarrhea

Broader (4)

Intestinal Disaccharidase Deficiency and Disaccharide MalabsorptionLactaseLactose Intolerancecongenital deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency.
Intestinal lactase is required for the hydrolysis of lactose that is the most essential carbohydrate in milk and the primary diet… 
Highly Cited
2009
Highly Cited
2009
Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)
BackgroundCongenital lactase deficiency (CLD) is a severe gastrointestinal disorder of newborns. The diagnosis is challenging and… 
Review
2009
Review
2009
Molecular genetics of human lactase deficiencies
Lactase non-persistence (adult-type hypolactasia) is present in more than half of the human population and is caused by the down… 
2009
2009
Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency.
BACKGROUND & AIMS Congenital lactase deficiency (CLD) is a cause of disaccharide intolerance and malabsorption characterized by… 
Review
2007
Review
2007
Molecular differentiation of congenital lactase deficiency from adult-type hypolactasia.
A limited fraction of the human adult population retains intestinal lactase-phlorizin hydrolase (LPH) activity during adulthood… 
Highly Cited
2006
Highly Cited
2006
Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.
Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with… 
2002
2002
Congenital Maltase-Glucoamylase Deficiency Associated With Lactase and Sucrase Deficiencies
Background Multiple enzyme deficiencies have been reported in some cases of congenital glucoamylase, sucrase, or lactase… 
Highly Cited
1998
Highly Cited
1998
Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene.
Congenital lactase deficiency (CLD) is an autosomal recessive, gastrointestinal disorder characterized by watery diarrhea… 
Highly Cited
1983
Highly Cited
1983
Congenital lactase deficiency. A clinical study on 16 patients.
There are at least 20 rare autosomal recessive disorders that are excessively common in Finland of which congenital lactase… 
Highly Cited
1969
Highly Cited
1969
The Infant Cry. A Spectrographic and Auditory Analysis
are also a new feature. Many references to the original publications are appended in all sections. It is perhaps inevitable that… 
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