Literature DB >> 32304547

The Financial Burden of an Undiagnosed Congenital Diarrhea Disorder.

Colleen LeBlanc1, Cameron Schlegel2, Jamie R Robinson3, Kelly Thomsen4, James R Goldenring3,5,6, Sari Acra4.   

Abstract

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Year:  2020        PMID: 32304547      PMCID: PMC7597672          DOI: 10.1097/MPG.0000000000002735

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN: 0277-2116            Impact factor:   3.288


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  5 in total

1.  Reversible deficits in apical transporter trafficking associated with deficiency in diacylglycerol acyltransferase.

Authors:  Cameron Schlegel; Lynne A Lapierre; Victoria G Weis; Janice A Williams; Izumi Kaji; Carolina Pinzon-Guzman; Nripesh Prasad; Braden Boone; Angela Jones; Hernan Correa; Shawn E Levy; Xianlin Han; Miao Wang; Kelly Thomsen; Sari Acra; James R Goldenring
Journal:  Traffic       Date:  2018-09-21       Impact factor: 6.215

2.  DGAT1 mutation is linked to a congenital diarrheal disorder.

Authors:  Joel T Haas; Harland S Winter; Elaine Lim; Andrew Kirby; Brendan Blumenstiel; Matthew DeFelice; Stacey Gabriel; Chaim Jalas; David Branski; Carrie A Grueter; Mauro S Toporovski; Tobias C Walther; Mark J Daly; Robert V Farese
Journal:  J Clin Invest       Date:  2012-11-01       Impact factor: 14.808

Review 3.  Advances in Evaluation of Chronic Diarrhea in Infants.

Authors:  Jay R Thiagarajah; Daniel S Kamin; Sari Acra; Jeffrey D Goldsmith; Joseph T Roland; Wayne I Lencer; Aleixo M Muise; James R Goldenring; Yaron Avitzur; Martín G Martín
Journal:  Gastroenterology       Date:  2018-04-12       Impact factor: 33.883

4.  Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea.

Authors:  Nina L Gluchowski; Chandramohan Chitraju; Joseph A Picoraro; Niklas Mejhert; Shirly Pinto; Winnie Xin; Daniel S Kamin; Harland S Winter; Wendy K Chung; Tobias C Walther; Robert V Farese
Journal:  J Lipid Res       Date:  2017-04-03       Impact factor: 5.922

5.  Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

Authors:  Jorik M van Rijn; Rico Chandra Ardy; Zarife Kuloğlu; Bettina Härter; Désirée Y van Haaften-Visser; Hubert P J van der Doef; Marliek van Hoesel; Aydan Kansu; Anke H M van Vugt; Marini Thian; Freddy T M Kokke; Ana Krolo; Meryem Keçeli Başaran; Neslihan Gurcan Kaya; Aysel Ünlüsoy Aksu; Buket Dalgıç; Figen Ozcay; Zeren Baris; Renate Kain; Edwin C A Stigter; Klaske D Lichtenbelt; Maarten P G Massink; Karen J Duran; Joke B G M Verheij; Dorien Lugtenberg; Peter G J Nikkels; Henricus G F Brouwer; Henkjan J Verkade; René Scheenstra; Bart Spee; Edward E S Nieuwenhuis; Paul J Coffer; Andreas R Janecke; Gijs van Haaften; Roderick H J Houwen; Thomas Müller; Sabine Middendorp; Kaan Boztug
Journal:  Gastroenterology       Date:  2018-03-29       Impact factor: 22.682

  5 in total

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