The current craze for vegan diets has an effect on the pediatric population. This type of diet,
which does not provide all the micronutrient requirements, exposes children to nutritional …

Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to
mutations in the epcam gene. Here we establish SPINT2, previously ascribed to congenital …

Monolayered epithelia are composed of tight cell assemblies that ensure polarized
exchanges. EpCAM, an unconventional epithelial-specific cell adhesion molecule, is …

Background Inflammatory bowel disease (IBD) is one of the most common chronic
gastrointestinal diseases, but the underlying molecular mechanisms remain largely …

Context Unlike homozygous variants, the implication of heterozygous variants on the leptin–
melanocortin pathway in severe obesity has not been established. Objective To describe the …

Abstract The Tricho‐Hepato‐Enteric (THE) syndrome is an autosomal recessive condition
marked by early and intractable diarrhea, hair abnormalities, and immune defects. Mutations …

Objectives Syndromic diarrhoea/tricho-hepato-enteric syndrome (SD/THE) is a rare
congenital syndrome. The main features are intractable diarrhoea of infancy, hair …

The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE) is a rare and multi-system
genetic disorder caused by mutation in SKIV2L or in TTC37, two genes encoding subunits of …

Results: Seven children, all from consanguineous parents, were studied for a median of 6.5
years. Three were permanently weaned off PN and experienced normal growth without …

Objectives: Research on long-term use of mitomycin C (MC) for recurrent esophageal
stenoses is limited. We assessed the long-term efficacy and safety of local application of MC …