Literature DB >> 23974064

A new genetic mutation in a patient with syndromic diarrhea and hepatoblastoma.

Valentina Bozzetti1, Giorgio Bovo, Alice Vanzati, Paola Roggero, Paolo E Tagliabue.   

Abstract

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Mesh：

Year:  2013        PMID： 23974064     DOI： 10.1097/MPG.0b013e31825600c4

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


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  5 in total

Review 1.  Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.

Authors:  Alexandre Fabre; Patrice Bourgeois; Marie-Edith Coste; Céline Roman; Vincent Barlogis; Catherine Badens
Journal:  Intractable Rare Dis Res       Date:  2017-08

Review 2.  The RNA exosome and RNA exosome-linked disease.

Authors:  Derrick J Morton; Emily G Kuiper; Stephanie K Jones; Sara W Leung; Anita H Corbett; Milo B Fasken
Journal:  RNA       Date:  2017-11-01       Impact factor: 4.942

3.  Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.

Authors:  Badr M Alsaleem; Mohammed Hasosah; Amna Basheer M Ahmed; Maher M Al Hatlani; Aziz Helal Alanazi; Abdulrahman Al-Hussaini; Ali T Asery; Khalid A Alghamdi; Muhanad M AlRuwaithi; Musa Ali M Khormi; Ahmed Al Sarkhy; Ali S Alshamrani
Journal:  Saudi J Gastroenterol       Date:  2022 Mar-Apr       Impact factor: 2.485

Review 4.  Syndromic diarrhea/Tricho-hepato-enteric syndrome.

Authors:  Alexandre Fabre; Christine Martinez-Vinson; Olivier Goulet; Catherine Badens
Journal:  Orphanet J Rare Dis       Date:  2013-01-09       Impact factor: 4.123

5.  Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.

Authors:  Wen-I Lee; Jing-Long Huang; Chien-Chang Chen; Ju-Li Lin; Ren-Chin Wu; Tang-Her Jaing; Liang-Shiou Ou
Journal:  Medicine (Baltimore)       Date:  2016-03       Impact factor: 1.889
  5 in total

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