Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 7 (of 7 Records) |
Query Trace: Congenital Sucrase-isomaltase Deficiency[original query] |
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Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome. Gut 2016 Nov . Henström Maria, Diekmann Lena, Bonfiglio Ferdinando, Hadizadeh Fatemeh, Kuech Eva-Maria, von Köckritz-Blickwede Maren, Thingholm Louise B, Zheng Tenghao, Assadi Ghazaleh, Dierks Claudia, Heine Martin, Philipp Ute, Distl Ottmar, Money Mary E, Belheouane Meriem, Heinsen Femke-Anouska, Rafter Joseph, Nardone Gerardo, Cuomo Rosario, Usai-Satta Paolo, Galeazzi Francesca, Neri Matteo, Walter Susanna, Simrén Magnus, Karling Pontus, Ohlsson Bodil, Schmidt Peter T, Lindberg Greger, Dlugosz Aldona, Agreus Lars, Andreasson Anna, Mayer Emeran, Baines John F, Engstrand Lars, Portincasa Piero, Bellini Massimo, Stanghellini Vincenzo, Barbara Giovanni, Chang Lin, Camilleri Michael, Franke Andre, Naim Hassan Y, D'Amato Mau |
Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2018 2 16 (10): 1673-1676. Garcia-Etxebarria Koldo, Zheng Tenghao, Bonfiglio Ferdinando, Bujanda Luis, Dlugosz Aldona, Lindberg Greger, Schmidt Peter T, Karling Pontus, Ohlsson Bodil, Simren Magnus, Walter Susanna, Nardone Gerardo, Cuomo Rosario, Usai-Satta Paolo, Galeazzi Francesca, Neri Matteo, Portincasa Piero, Bellini Massimo, Barbara Giovanni, Jonkers Daisy, Eswaran Shanti, Chey William D, Kashyap Purna, Chang Lin, Mayer Emeran A, Wouters Mira M, Boeckxstaens Guy, Camilleri Michael, Franke Andre, D'Amato Mau |
Sucrase-isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders. Journal of pediatric gastroenterology and nutrition 2020 8 72 (1): 29-35. Deb Chirajyoti, Campion Stephani, Derrick Veronica, Ruiz Vanessa, Abomoelak Bassam, Avdella Angelina, Zou Baiming, Horvath Karoly, Mehta Devendra |
Hypomorphic SI genetic variants are associated with childhood chronic loose stools. PloS one 2020 15 (5): e0231891. Chumpitazi Bruno P, Lewis Jeffery, Cooper Derick, D'Amato Mauro, Lim Joel, Gupta Sandeep, Miranda Adrian, Terry Natalie, Mehta Devendra, Scheimann Ann, O'Gorman Molly, Tipnis Neelesh, Davies Yinka, Friedlander Joel, Smith Heather, Punati Jaya, Khlevner Julie, Setty Mala, Di Lorenzo Car |
Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency. Nutrients 2020 12 13 (1): . Husein Diab M, Rizk Sandra, Naim Hassan |
Severe pathogenic variants of intestinal sucrase-isomaltase interact avidly with the wild type enzyme and negatively impact its function and trafficking. Biochimica et biophysica acta. Molecular basis of disease 2022 8 1868 (11): 166523. Husein Diab M, Rizk Sandra, Hoter Abdullah, Wanes Dalanda, D'Amato Mauro, Naim Hassan |
Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2024 8 35 (4): 343-349. Fatma ?ssi ?ryanc?, Burcu Güven, Murat Çak |
- Page last reviewed:Feb 1, 2024
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