Congenital Lactase Deficiency

07/28/2015 - "A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe."
01/01/2012 - "Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency."
06/01/2009 - "Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency."
01/22/2009 - "Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)."
02/01/2006 - "Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency."

07/28/2015 - "In contrast, lactose feeding immediately caused watery diarrhoea, suggesting congenital lactase deficiency. "
10/01/1982 - "Use of lactose-hydrolyzed human milk in congenital lactase deficiency."
03/01/1975 - "Primary congenital lactase deficiency is not frequent, whereas secondary forms as much more usual and appear, in primary malabsorption syndromes and in the coeliac disease, very often along with clinical tolerance to lactose. "
02/01/2006 - "Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. "
10/01/1998 - "Congenital lactase deficiency (CLD) is an autosomal recessive, gastrointestinal disorder characterized by watery diarrhea starting during the first 1-10 d of life, in infants fed lactose-containing milks. "

01/01/2022 - "Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive."
10/01/1998 - "Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene."
02/22/2019 - "Congenital lactase deficiency (CLD) is a severe autosomal recessive genetic disorder that affects the functional capacity of the intestinal protein lactase-phlorizin hydrolase (LPH). "
06/01/1998 - "Family 1 includes bacterial and archaeal enzymes as well as lactase phlorizin-hydrolase and klotho, glycosidases implicated in disaccharide intolerance II and aging respectively. "

05/01/2001 - "The decreased content of Escherichia coli with normal enzymatic activity (less than 10(7) colony-forming units) was noted in one-third of the patients with the syndrome of celiac disease and congenital lactase deficiency, in about a half of the patients with the syndrome of disaccharidase insufficiency and least of all in patients with celiac disease (9.1%). "
11/01/2022 - "There are currently three known congenital disaccharidase deficiencies: congenital lactase deficiency (CLD), congenital sucrase-isomaltase deficiency (CSD), and congenital trehalase deficiency (CTD). "
02/01/1969 - " The syndromes described include congenital lactase deficiency, acquired lactase deficiency in teenagers and adults, acquired generalized disaccharidase deficiency secondary to diffuse mucosal damage, acquired lactose intolerance secondary to alterations in the intestinal transit, sucrase-isomaltase deficiencies, and other disease associations connected with lactase deficiency such as colitis."

01/01/2009 - "Congenital lactase deficiency is caused by mutations in the gene coding for the lactase enzyme (LCT). "
01/01/2009 - "Congenital lactase deficiency belongs to the Finnish Disease Heritage and is a recessively inherited diarrheal disease of the newborn, in which the activity of the lactase enzyme of the epithelial cells of the small intestine is very low ever since the birth. "
06/01/1998 - "Family 1 includes bacterial and archaeal enzymes as well as lactase phlorizin-hydrolase and klotho, glycosidases implicated in disaccharide intolerance II and aging respectively. "

04/25/2002 - "This case illustrates that, similar to congenital lactase deficiency (Mendelian Interance in Man database: *223000, Alactasia, Hereditary Disaccharide Intolerance Type II), hypercalcemia may complicate neonatal Sucrase-Isomaltase deficiency. "
06/01/2009 - "Congenital lactase deficiency (CLD) is a cause of disaccharide intolerance and malabsorption characterized by watery diarrhea in infants fed breast milk or lactose-containing formulas. "

02/01/1969 - " The syndromes described include congenital lactase deficiency, acquired lactase deficiency in teenagers and adults, acquired generalized disaccharidase deficiency secondary to diffuse mucosal damage, acquired lactose intolerance secondary to alterations in the intestinal transit, sucrase-isomaltase deficiencies, and other disease associations connected with lactase deficiency such as colitis."

02/22/2019 - "Congenital lactase deficiency (CLD) is a severe autosomal recessive genetic disorder that affects the functional capacity of the intestinal protein lactase-phlorizin hydrolase (LPH). "

02/01/1969 - " The syndromes described include congenital lactase deficiency, acquired lactase deficiency in teenagers and adults, acquired generalized disaccharidase deficiency secondary to diffuse mucosal damage, acquired lactose intolerance secondary to alterations in the intestinal transit, sucrase-isomaltase deficiencies, and other disease associations connected with lactase deficiency such as colitis."

06/01/1998 - "Family 1 includes bacterial and archaeal enzymes as well as lactase phlorizin-hydrolase and klotho, glycosidases implicated in disaccharide intolerance II and aging respectively. "