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pro vyhledávání: '"congenital tufting enteropathy"'
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Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)
Abstract Background Infants with neonatal-onset diarrhea present with intractable diarrhea in the first few weeks of life. A monogenic mutation is one of the disease etiologies and the use of next-generation sequencing (NGS) has made it possible to s
Externí odkaz:
https://doaj.org/article/08068b112e3342bd91cfc4fc1bd78a60
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 12, Iss 4, Pp 1353-1371 (2021)
Background & Aims: Congenital tufting enteropathy (CTE) is an intractable diarrheal disease of infancy caused by mutations of epithelial cell adhesion molecule (EpCAM). The cellular and molecular basis of CTE pathology has been elusive. We hypothesiz
Externí odkaz:
https://doaj.org/article/5801d138dcd94c91adee3f5dcbc1d252
Autor:
Barun Das, Mamata Sivagnanam
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 1, p 19 (2020)
Congenital tufting enteropathy (CTE) is an autosomal recessive disease of infancy that causes severe intestinal failure with electrolyte imbalances and impaired growth. CTE is typically diagnosed by its characteristic histological features, including
Externí odkaz:
https://doaj.org/article/108e8d37ea9e44fc92f73600063ed5f6
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 12, Iss 4, Pp 1353-1371 (2021)
Cellular and Molecular Gastroenterology and Hepatology
Cellular and Molecular Gastroenterology and Hepatology
Background & Aims Congenital tufting enteropathy (CTE) is an intractable diarrheal disease of infancy caused by mutations of epithelial cell adhesion molecule (EpCAM). The cellular and molecular basis of CTE pathology has been elusive. We hypothesize
Autor:
Barun Das, Kevin Okamoto, John Rabalais, Ronald R. Marchelletta, Kim E. Barrett, Soumita Das, Maho Niwa, Mamata Sivagnanam
Publikováno v:
Cells, Vol 9, Iss 4, p 946 (2020)
Congenital tufting enteropathy (CTE) is a rare chronic diarrheal disease of infancy caused by mutations in epithelial cell adhesion molecule (EpCAM). Previously, a murine CTE model showed mis-localization of EpCAM away from the basolateral cell surfa
Externí odkaz:
https://doaj.org/article/3dbb270ff7f54b17916142b6701171e3
Publikováno v:
Liver International. 41:2132-2138
Background & aims Tufting enteropathy (TE) is a rare congenital disorder often caused by mutations in the gene encoding epithelial cell adhesion molecule (EpCam). The disease leads to diarrhea, intestinal failure and dependence on total parenteral nu
Autor:
Barun Das, Mamata Sivagnanam
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 19, p 19 (2021)
Journal of Clinical Medicine
Journal of Clinical Medicine
Congenital tufting enteropathy (CTE) is an autosomal recessive disease of infancy that causes severe intestinal failure with electrolyte imbalances and impaired growth. CTE is typically diagnosed by its characteristic histological features, including
Autor:
Alyaa Al-Ibraheemi, Sara O. Vargas, Jeff Goldsmith, Sonja Chen, Antonio R. Perez-Atayde, Rima Fawaz
Publikováno v:
American Journal of Surgical Pathology. 45:1091-1097
Congenital tufting enteropathy (CTE) is a rare heritable cause of intractable diarrhea due to EPCAM mutation. Pathologic findings include intestinal villous atrophy, tufted discohesive tear-drop-shaped epithelium, and a normal brush border. In affect
Publikováno v:
World Journal of Clinical Cases
Background Congenital tufting enteropathy (CTE) is a rare cause of diarrhea in children. However, it can result in early-onset of chronic diarrhea and failure to thrive. Children with this disease have to depend on total parenteral nutrition (TPN), a