Literature DB >> 28937539

Congenital Diarrhea From DGAT1 Mutation Leading to Electrolyte Derangements, Protein-losing Enteropathy, and Rickets.

Thomas L Ratchford1, Amelia J Kirby2, Hailey Pinz2, Dhiren R Patel1.   

Abstract

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Year:  2018        PMID： 28937539     DOI： 10.1097/MPG.0000000000001750

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


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  5 in total

1.  DGAT2 partially compensates for lipid-induced ER stress in human DGAT1-deficient intestinal stem cells.

Authors:  Jorik M van Rijn; Marliek van Hoesel; Cecilia de Heus; Anke H M van Vugt; Judith Klumperman; Edward E S Nieuwenhuis; Roderick H J Houwen; Sabine Middendorp
Journal:  J Lipid Res       Date:  2019-07-17       Impact factor: 5.922

2.  Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency-related diarrhea: a case report of a 17-year-old patient and literature review.

Authors:  Ellen Deolet; Bert Callewaert; Jeroen Geldof; Stephanie Van Biervliet; Saskia Vande Velde; Jo Van Dorpe; Myriam Van Winckel; Anne Hoorens
Journal:  Virchows Arch       Date:  2022-06-28       Impact factor: 4.064

Review 3.  From Congenital Disorders of Fat Malabsorption to Understanding Intra-Enterocyte Mechanisms Behind Chylomicron Assembly and Secretion.

Authors:  Emile Levy; Jean François Beaulieu; Schohraya Spahis
Journal:  Front Physiol       Date:  2021-01-27       Impact factor: 4.566

4.  DGAT1 mutations leading to delayed chronic diarrhoea: a case report.

Authors:  Luojia Xu; Weizhong Gu; Youyou Luo; Jingan Lou; Jie Chen
Journal:  BMC Med Genet       Date:  2020-12-01       Impact factor: 2.103

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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