Literature DB >> 23448457

Gastroenterological complications of Anderson-Fabry disease.

Piotr Buda1, Janusz Książyk, Anna Tylki-Szymanska.   

Abstract

Fabry disease is a multisystemic X-linked lysosomal storage disorder, caused by the partial or complete deficiency of alpha-galactosidase A activity. The storage of glycosphingolipids in the vascular endothelium and in various tissues can lead to a broad spectrum of clinical manifestations. Renal failure, cardiovascular disease, and strokes are the main causes of morbidity and mortality. Gastrointestinal symptoms, although common, are often under-reported in the literature. This review covers the gastroenterological aspects of Fabry disease.

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Year:  2013        PMID: 23448457     DOI: 10.2174/13816128113199990347

Source DB:  PubMed          Journal:  Curr Pharm Des        ISSN: 1381-6128            Impact factor:   3.116


  9 in total

1.  Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.

Authors:  William R Wilcox; Ulla Feldt-Rasmussen; Ana Maria Martins; Alberto Ortiz; Roberta M Lemay; Ana Jovanovic; Dominique P Germain; Carmen Varas; Katherine Nicholls; Frank Weidemann; Robert J Hopkin
Journal:  JIMD Rep       Date:  2017-05-17

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.  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

4.  Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.

Authors:  Raphael Schiffmann; Daniel G Bichet; Ana Jovanovic; Derralynn A Hughes; Roberto Giugliani; Ulla Feldt-Rasmussen; Suma P Shankar; Laura Barisoni; Robert B Colvin; J Charles Jennette; Fred Holdbrook; Andrew Mulberg; Jeffrey P Castelli; Nina Skuban; Jay A Barth; Kathleen Nicholls
Journal:  Orphanet J Rare Dis       Date:  2018-04-27       Impact factor: 4.123

5.  Fabry Disease with Pacemaker Implantation as the Initial Event.

Authors:  Yuji Kato; Ayako Ishikawa; Satoshi Aoki; Hiroyuki Sato; Yoshie Ojima; Saeko Kagaya; Tasuku Nagasawa
Journal:  Intern Med       Date:  2019-06-27       Impact factor: 1.271

6.  Divergent Impact of Enzyme Replacement Therapy on Human Cardiomyocytes and Enterocytes Affected by Fabry Disease: Correlation with Mannose-6-phosphate Receptor Expression.

Authors:  Andrea Frustaci; Behzad Najafian; Giuseppe Donato; Romina Verardo; Cristina Chimenti; Luigi Sansone; Manuel Belli; Enza Vernucci; Matteo Antonio Russo
Journal:  J Clin Med       Date:  2022-02-28       Impact factor: 4.241

Review 7.  Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective.

Authors:  Fatih Ezgu; Erkan Alpsoy; Zerrin Bicik Bahcebasi; Ozgur Kasapcopur; Melis Palamar; Huseyin Onay; Binnaz Handan Ozdemir; Mehmet Akif Topcuoglu; Omac Tufekcioglu
Journal:  Orphanet J Rare Dis       Date:  2022-03-02       Impact factor: 4.123

8.  Changes in Ionic Conductance Signature of Nociceptive Neurons Underlying Fabry Disease Phenotype.

Authors:  Barbara Namer; Kirstin Ørstavik; Roland Schmidt; Norbert Mair; Inge Petter Kleggetveit; Maximillian Zeidler; Theresa Martha; Ellen Jorum; Martin Schmelz; Theodora Kalpachidou; Michaela Kress; Michiel Langeslag
Journal:  Front Neurol       Date:  2017-07-14       Impact factor: 4.003

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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