Literature DB >> 1924035

Colonic involvement in Fabry's disease.

C I Jack1, A I Morris, D G Nasmyth, N Carroll.   

Abstract

The case of a 54 year old man with Fabry's disease and extensive jejunal and colonic diverticulosis causing colonic stricture is presented. Histological examination of the resected colon revealed evidence of ceramide trihexose deposition in the myenteric nerve plexus. Colonic involvement in Fabry's disease has not been reported before.

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Year:  1991        PMID： 1924035      PMCID： PMC2398882          DOI： 10.1136/pgmj.67.788.584

Source DB:  PubMed          Journal:  Postgrad Med J        ISSN： 0032-5473            Impact factor:   2.401


  6 in total

1.  THE NEUROPATHOLOGY OF HEREDITARY DYSTOPIC LIPIDOSIS.

Authors:  A N RAHMAN; R LINDENBERG
Journal:  Arch Neurol       Date:  1963-10

2.  Gut lesions in Fabry's disease without a rash.

Authors:  D M Flynn; B D Lake; C B Boothby; E P Young
Journal:  Arch Dis Child       Date:  1972-02       Impact factor: 3.791

3.  Jejunal diverticulosis with perforation as a complication of Fabry's disease.

Authors:  L S Friedman; S E Kirkham; J R Thistlethwaite; D Platika; E H Kolodny; M D Schuffler
Journal:  Gastroenterology       Date:  1984-03       Impact factor: 22.682

4.  Intestinal manifestations of Fabry's disease.

Authors:  J W Rowe; J I Gilliam; T A Warthin
Journal:  Ann Intern Med       Date:  1974-11       Impact factor: 25.391

5.  Anorexia, weight loss, and diarrhea as presenting symptoms of angiokeratoma corporis diffusum (Fabry-Anderson's disease).

Authors:  G F Nelis; G J Jacobs
Journal:  Dig Dis Sci       Date:  1989-11       Impact factor: 3.199

6.  Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry's disease.

Authors:  B D O'Brien; T K Shnitka; R McDougall; K Walker; L Costopoulos; B Lentle; L Anholt; H Freeman; A B Thomson
Journal:  Gastroenterology       Date:  1982-05       Impact factor: 22.682
  6 in total
  9 in total

1.  Exocrine pancreatic insufficiency is not a cause of abdominal complaints in patients with Fabry disease.

Authors:  Miroslav Vujasinovic; Bojan Tepes; Bojan Vujkovac; Andreja Cokan Vujkovac; Martin Tretjak; Vesna Korat
Journal:  Wien Klin Wochenschr       Date:  2015-04-03       Impact factor: 1.704

Review 2.  Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis.

Authors:  Claire Zar-Kessler; Amel Karaa; Katherine Bustin Sims; Virginia Clarke; Braden Kuo
Journal:  Therap Adv Gastroenterol       Date:  2016-04-15       Impact factor: 4.409

3.  Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease.

Authors:  Karen M Ashe; Eva Budman; Dinesh S Bangari; Craig S Siegel; Jennifer B Nietupski; Bing Wang; Robert J Desnick; Ronald K Scheule; John P Leonard; Seng H Cheng; John Marshall
Journal:  Mol Med       Date:  2015-04-30       Impact factor: 6.354

4.  Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases?

Authors:  J Politei; C Durand; A B Schenone; A Torres; J Mukdsi; B L Thurberg
Journal:  Mol Genet Metab Rep       Date:  2017-03-25

5.  Fabry Disease With Concomitant Lewy Body Disease.

Authors:  Kelly Del Tredici; Albert C Ludolph; Simone Feldengut; Christian Jacob; Heinz Reichmann; Jürgen R Bohl; Heiko Braak
Journal:  J Neuropathol Exp Neurol       Date:  2020-04-01       Impact factor: 3.685

Review 6.  Fabry disease - a multisystemic disease with gastrointestinal manifestations.

Authors:  Malte Lenders; Eva Brand
Journal:  Gut Microbes       Date:  2022 Jan-Dec

7.  Gastrointestinal Symptoms of Patients with Fabry Disease.

Authors:  Licia Pensabene; Simona Sestito; Angela Nicoletti; Francesca Graziano; Pietro Strisciuglio; Daniela Concolino
Journal:  Gastroenterol Res Pract       Date:  2015-12-31       Impact factor: 2.260

8.  Genetic variants associated with gastrointestinal symptoms in Fabry disease.

Authors:  Maria Teresa Di Martino; Francesca Scionti; Simona Sestito; Angela Nicoletti; Mariamena Arbitrio; Pietro Hiram Guzzi; Valentina Talarico; Federica Altomare; Maria Teresa Sanseviero; Giuseppe Agapito; Antonio Pisani; Eleonora Riccio; Osvaldo Borrelli; Daniela Concolino; Licia Pensabene
Journal:  Oncotarget       Date:  2016-12-27

Review 9.  Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review.

Authors:  Fabio Caputo; Lisa Lungaro; Adriana Galdi; Eleonora Zoli; Fiorella Giancola; Giacomo Caio; Roberto De Giorgio; Giorgio Zoli
Journal:  Int J Environ Res Public Health       Date:  2021-03-23       Impact factor: 3.390
  9 in total

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