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Quoted phrase not found in phrase index: "Congenital malabsorptive diarrhea 4"
Page 1
Congenital intestinal diarrhoeal diseases: A diagnostic and therapeutic challenge.
Posovszky C. Posovszky C. Best Pract Res Clin Gastroenterol. 2016 Apr;30(2):187-211. doi: 10.1016/j.bpg.2016.03.004. Epub 2016 Mar 11. Best Pract Res Clin Gastroenterol. 2016. PMID: 27086885 Review.
Congenital diarrhoeal disorders are a heterogeneous group of inherited malabsorptive or secretory diseases typically appearing in the first weeks of life, which may be triggered by the introduction of distinct nutrients. ...In principle, they can be clinically class …
Congenital diarrhoeal disorders are a heterogeneous group of inherited malabsorptive or secretory diseases typically appearing …
Congenital diarrheal disorders: an updated diagnostic approach.
Terrin G, Tomaiuolo R, Passariello A, Elce A, Amato F, Di Costanzo M, Castaldo G, Canani RB. Terrin G, et al. Int J Mol Sci. 2012;13(4):4168-4185. doi: 10.3390/ijms13044168. Epub 2012 Mar 29. Int J Mol Sci. 2012. PMID: 22605972 Free PMC article. Review.
Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene …
Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with the …
Sucrase-Isomaltase Deficiency as a Potential Masquerader in Irritable Bowel Syndrome.
Kim SB, Calmet FH, Garrido J, Garcia-Buitrago MT, Moshiree B. Kim SB, et al. Dig Dis Sci. 2020 Feb;65(2):534-540. doi: 10.1007/s10620-019-05780-7. Epub 2019 Sep 6. Dig Dis Sci. 2020. PMID: 31493040
Just like lactase deficiency, SID causes symptoms of maldigestion syndromes including abdominal pain, bloating, gas, and diarrhea. In this study, we aim to determine the prevalence of SID in patients with presumed IBS-D/M and characterize its clinical presentation. …
Just like lactase deficiency, SID causes symptoms of maldigestion syndromes including abdominal pain, bloating, gas, and diarrhea …
Congenital Rare Diseases Causing Persistent Diarrhea in the Newborn: A Single Center Experience.
Hoşnut FÖ, Sahin GE, Ozyazıcı A, Olgac A, Aksu AU. Hoşnut FÖ, et al. Z Geburtshilfe Neonatol. 2022 Oct;226(5):311-318. doi: 10.1055/a-1774-5005. Epub 2022 May 16. Z Geburtshilfe Neonatol. 2022. PMID: 35576965
The patients were divided into groups according to the current CDD classification. The rate of consanguinity among parents was 77.4%. Of the patients, 16 (51.6%) were female and 15 (48.4%) were male. ...The most common etiologic factors were digestive disorders of f …
The patients were divided into groups according to the current CDD classification. The rate of consanguinity among parents was 77.4%. …
Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review.
Caralli M, Roman C, Coste ME, Roquelaure B, Buffat C, Bourgeois P, Badens C, Fabre A. Caralli M, et al. J Pediatr Gastroenterol Nutr. 2021 Jun 1;72(6):826-832. doi: 10.1097/MPG.0000000000003049. J Pediatr Gastroenterol Nutr. 2021. PMID: 33976085
OBJECTIVES: Congenital diarrhea and enteropathies linked to epithelial structural abnormalities constitute 3 different rare diseases: the tufting enteropathies (TE; EPCAM and SPINT2 mutations), microvillous inclusion disease (MVID; MYO5B and STX3 mutations), and tri …
OBJECTIVES: Congenital diarrhea and enteropathies linked to epithelial structural abnormalities constitute 3 different rare di …
Intractable diarrhea of infancy: 10 years of experience.
Hizarcioglu-Gulsen H, Saltik-Temizel IN, Demir H, Gurakan F, Ozen H, Yuce A. Hizarcioglu-Gulsen H, et al. J Pediatr Gastroenterol Nutr. 2014 Nov;59(5):571-6. doi: 10.1097/MPG.0000000000000485. J Pediatr Gastroenterol Nutr. 2014. PMID: 25000351
Descriptive analyses were used for statistical evaluation. RESULTS: The male/female ratio was 1.4. The median age at onset of diarrhea was 12 days. A total of 70% and 11% of patients were severely and moderately malnourished, respectively. Carbohydrate malabsorpt …
Descriptive analyses were used for statistical evaluation. RESULTS: The male/female ratio was 1.4. The median age at onset of diar …
Enteric anendocrinosis attributable to a novel Neurogenin-3 variant.
Azab B, Dardas Z, Rabab'h O, Srour L, Telfah H, Hatmal MM, Mustafa L, Rashdan L, Altamimi E. Azab B, et al. Eur J Med Genet. 2020 Sep;63(9):103981. doi: 10.1016/j.ejmg.2020.103981. Epub 2020 Jun 20. Eur J Med Genet. 2020. PMID: 32574610
Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. ...Here we investigate a case of a male infant who presented with mysterious severe malabsorptive di …
Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea …
Congenital glucose-galactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia.
Saadah OI, Alghamdi SA, Sindi HH, Alhunaitti H, Bin-Taleb YY, Alhussaini BH. Saadah OI, et al. Arab J Gastroenterol. 2014 Mar;15(1):21-3. doi: 10.1016/j.ajg.2014.01.004. Epub 2014 Feb 1. Arab J Gastroenterol. 2014. PMID: 24630509
BACKGROUND AND STUDY AIMS: Congenital glucose galactose malabsorption (CGGM) is a rare autosomal recessive disorder caused by a defect in the sodium-coupled transport of glucose and galactose across the intestinal brush border presenting with neonatal diarrhoea …
BACKGROUND AND STUDY AIMS: Congenital glucose galactose malabsorption (CGGM) is a rare autosomal recessive disorder caused by …
Enterokinase and trypsin activities in pancreatic insufficiency and diseases of the small intestine.
Lebenthal E, Antonowicz I, Shwachman H. Lebenthal E, et al. Gastroenterology. 1976 Apr;70(4):508-12. Gastroenterology. 1976. PMID: 943355
Patients with hypoproteinemia and gastrointestinal protein loss, associated with intestinal lymphangiectasia (4 patients) and intestinal lymphoid nodular hyperplasia (3 patients), had normal or insignificant decrease of enterokinase and trypsin activities. ...The second gr …
Patients with hypoproteinemia and gastrointestinal protein loss, associated with intestinal lymphangiectasia (4 patients) and intesti …
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, Lacaille F, Campeotto F, Cerf-Bensussan N, Janecke AR, Mueller T, Koletzko S, Bonnefont JP, Lyonnet S, Munnich A, Poirier F, Smahi A. Salomon J, et al. Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19. Hum Genet. 2014. PMID: 24142340
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 sodium diarrhea, as a second gene associated with CTE and report molecular and …
Congenital tufting enteropathy (CTE) is a rare and severe enteropathy recently ascribed to mutations in the epcam gene. Here we estab …
21 results