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Congenital lactase deficiency

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Congenital lactase deficiency" returned 1 free, full-text review articles. First 1 results:
Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives.
Last Updated: Feb 25, 2020

Congenital lactase deficiency (CLD) is a severe autosomal recessive genetic disorder that affects the functional capacity of the intestinal protein lactase-phlorizin hydrolase (LPH). This disorder is diagnosed already during the first few days of the newborn's life due to the inability ...

Molecular differentiation of congenital lactase deficiency from adult-type hypolactasia.
Last Updated: Feb 14, 2019

A limited fraction of the human adult population retains intestinal lactase-phlorizin hydrolase (LPH) activity during adulthood, and this is called the lactase persistence phenotype. However, 95% of all adults have adult-type hypolactasia (ATH) and have difficulty digesting milk sugar. ...

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1 Free Review Articles 2 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Congenital lactase deficiency" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Congenital lactase deficiency" returned 7 free, full-text research articles. First few results:
A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe.
Last Updated: Nov 13, 2018

Congenital lactase deficiency is an extremely rare gastrointestinal disorder characterized by neonatal-onset watery diarrhoea and failure to thrive. We present the first genetically confirmed case of congenital lactase deficiency in Central Europe.

Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency.
Last Updated: Jul 27, 2019

Intestinal lactase is required for the hydrolysis of lactose that is the most essential carbohydrate in milk and the primary diet source of newborn. Congenital lactase deficiency [CLD (MIM 223000)] is a severe gastrointestinal disorder and is characterized by watery diarrhea due ...

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7 Free Research Articles 15 Research Articles