Literature DB >> 23103650

Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.

Stefanie Uhrich1, Zaining Wu, Jie-Yu Huang, C Ronald Scott.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 23103650     DOI： 10.1097/01.mpg.0000421408.65257.b5

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


× No keyword cloud information.
  15 in total

1.  Long term differential consequences of miglustat therapy on intestinal disaccharidases.

Authors:  Mahdi Amiri; Hassan Y Naim
Journal:  J Inherit Metab Dis       Date:  2014-05-27       Impact factor: 4.982

2.  Structure-function analysis of human sucrase-isomaltase identifies key residues required for catalytic activity.

Authors:  Birthe Gericke; Natalie Schecker; Mahdi Amiri; Hassan Y Naim
Journal:  J Biol Chem       Date:  2017-05-18       Impact factor: 5.157

3.  Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.

Authors:  Julien L Marcadier; Margaret Boland; C Ronald Scott; Kheirie Issa; Zaining Wu; Adam D McIntyre; Robert A Hegele; Michael T Geraghty; Matthew A Lines
Journal:  CMAJ       Date:  2014-12-01       Impact factor: 8.262

4.  Sucrase-Isomaltase Deficiency as a Potential Masquerader in Irritable Bowel Syndrome.

Authors:  Su Bin Kim; Fernando H Calmet; Jose Garrido; Monica T Garcia-Buitrago; Baharak Moshiree
Journal:  Dig Dis Sci       Date:  2019-09-06       Impact factor: 3.199

5.  The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency.

Authors:  Heather Smith; Beverly Romero; Emuella Flood; Anne Boney
Journal:  Qual Life Res       Date:  2021-03-27       Impact factor: 4.147

6.  Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.

Authors:  Maria Henström; Lena Diekmann; Ferdinando Bonfiglio; Fatemeh Hadizadeh; Eva-Maria Kuech; Maren von Köckritz-Blickwede; Louise B Thingholm; Tenghao Zheng; Ghazaleh Assadi; Claudia Dierks; Martin Heine; Ute Philipp; Ottmar Distl; Mary E Money; Meriem Belheouane; Femke-Anouska Heinsen; Joseph Rafter; Gerardo Nardone; Rosario Cuomo; Paolo Usai-Satta; Francesca Galeazzi; Matteo Neri; Susanna Walter; Magnus Simrén; Pontus Karling; Bodil Ohlsson; Peter T Schmidt; Greger Lindberg; Aldona Dlugosz; Lars Agreus; Anna Andreasson; Emeran Mayer; John F Baines; Lars Engstrand; Piero Portincasa; Massimo Bellini; Vincenzo Stanghellini; Giovanni Barbara; Lin Chang; Michael Camilleri; Andre Franke; Hassan Y Naim; Mauro D'Amato
Journal:  Gut       Date:  2016-11-21       Impact factor: 23.059

7.  Hypomorphic SI genetic variants are associated with childhood chronic loose stools.

Authors:  Bruno P Chumpitazi; Jeffery Lewis; Derick Cooper; Mauro D'Amato; Joel Lim; Sandeep Gupta; Adrian Miranda; Natalie Terry; Devendra Mehta; Ann Scheimann; Molly O'Gorman; Neelesh Tipnis; Yinka Davies; Joel Friedlander; Heather Smith; Jaya Punati; Julie Khlevner; Mala Setty; Carlo Di Lorenzo
Journal:  PLoS One       Date:  2020-05-20       Impact factor: 3.240

Review 8.  Diagnosing and Treating Intolerance to Carbohydrates in Children.

Authors:  Roberto Berni Canani; Vincenza Pezzella; Antonio Amoroso; Tommaso Cozzolino; Carmen Di Scala; Annalisa Passariello
Journal:  Nutrients       Date:  2016-03-10       Impact factor: 5.717

9.  Use of the Biphasic (13)C-Sucrose/Glucose Breath Test to Assess Sucrose Maldigestion in Adults with Functional Bowel Disorders.

Authors:  Antone R Opekun; Albert M Balesh; Harold T Shelby
Journal:  Biomed Res Int       Date:  2016-08-08       Impact factor: 3.411

10.  The multiple roles of sucrase-isomaltase in the intestinal physiology.

Authors:  Birthe Gericke; Mahdi Amiri; Hassan Y Naim
Journal:  Mol Cell Pediatr       Date:  2016-01-26
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.