A novel mutation within the lactase gene (): the first report of congenital lactase deficiency diagnosed in Central Europe [PDF]
BMC Gastroenterol, 2015 Walid Fazeli +3 more
core +4 more sources
Lactase Deficiency Diagnosed by Endoscopic Biopsy-based Method is Associated With Positivity to Glucose Breath Test [PDF]
J Neurogastroenterol Motil, 2023 Ik Hyun Jo +5 more
openalex +3 more sources
Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5‐Anhydroglucitol [PDF]
Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.ABSTRACT Neutropenia in Glycogen Storage Disease Type Ib (GSDIb) and G6PC3 deficiency results from defects in metabolite repair, leading to the accumulation of 1,5‐anhydroglucitol‐6‐phosphate (1,5‐AG6P). Treatment currently relies on inhibitors of SGLT2, the renal sodium‐glucose co‐transporter, which indirectly enhances urinary excretion of 1,5 ...
Maria Veiga‐da‐Cunha +3 more
wiley +2 more sources
Selective lactase deficiency is common in pediatric patients undergoing upper endoscopy [PDF]
J Mol Biochem, 2018 Lactase deficiency can lead to significant symptoms in the pediatric population. To date, few studies have examined the prevalence of enzyme testing-based lactase and other disaccharidase deficiencies (DDs) in pediatric patients undergoing upper ...
Goodwin, Annie +3 more
core +2 more sources
Genetic aspects of lactase deficiency in indigenous populations of Siberia [PDF]
Вавиловский журнал генетики и селекцииThe ability to metabolize lactose in adulthood is associated with the persistence of lactase enzyme activity. In European populations, lactase persistence is determined mainly by the presence of the rs4988235-T variant in the MCM6 gene, which increases ...
B. A. Malyarchuk
doaj +2 more sources
Combined lactase and trehalase deficiency as a cause of blood lose in young man
Czech Journal of Food SciencesTrehalose is a disaccharide composed of two glucose that can be found in various plant and animal species. Mammals are not able to synthesize trehalose but it is usually easily enzymatically broken down into 2 molecules of glucose.
Natalie Friedova +4 more
doaj +2 more sources
The American Journal of Clinical Nutrition, 1972 Vinodini Reddy, Jitender Pershad
openaire +4 more sources
One mechanism of spleen-kidney yang deficiency IBS-D: intestinal microbiota affect ATPase [PDF]
Frontiers in MicrobiologyBackgroundThis study aimed to investigate the effects of adenine and Folium senna combined with restraint tail-clamping stress method on the intestinal microbiota of mice with spleen-kidney yang deficiency type diarrhea predominant irritable bowel ...
Qi Long +7 more
doaj +2 more sources
Disaccharidase Deficiency in Pediatric Patients with Inflammatory Bowel Disease
Gastrointestinal Disorders, 2022 Background: Disaccharidase (DS) deficiencies have been reported in pediatric patients with inflammatory bowel disease (IBD), but the relationship between duodenal inflammation and DS deficiency has not been evaluated outside of lactase deficiency ...
Chance S. Friesen +4 more
doaj +1 more source
Incidence of Lactase Deficiency in Ulcerative Colitis
Gastroenterology, 1967 Albert D. Newcomer, Douglas B. McGill
openaire +4 more sources