Literature DB >> 16396830

Clinicopathologic conference: Barth Syndrome.

James C Huhta1, Herbert H Pomerance, Enid Gilbert Barness.   

Abstract

A case of Barth Syndrome is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The current understanding of etiology is included, including elevation of 3-methylglutaconic acid (3MGC).

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Year:  2005        PMID： 16396830     DOI： 10.1080/15227950500405429

Source DB:  PubMed          Journal:  Fetal Pediatr Pathol        ISSN： 1551-3815            Impact factor:   0.958


  6 in total

Review 1.  TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome.

Authors:  Anders O Garlid; Calvin T Schaffer; Jaewoo Kim; Hirsh Bhatt; Vladimir Guevara-Gonzalez; Peipei Ping
Journal:  Gene       Date:  2019-10-21       Impact factor: 3.688

2.  Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome.

Authors:  Tae Yeon Yoo; Mock Ryeon Kim; Jae Sung Son; Ran Lee; Sun Hwan Bae; Sochung Chung; Kyo Sun Kim; Moon-Woo Seong; Sung Sup Park
Journal:  J Cardiovasc Ultrasound       Date:  2016-06-22

3.  Case report of Barth syndrome: a forgotten cause of cardiomyopathy.

Authors:  Shiavax Rao; Arjun Kanwal; Sriram Padmanabhan
Journal:  Eur Heart J Case Rep       Date:  2021-07-05

Review 4.  Barth syndrome.

Authors:  Sarah L N Clarke; Ann Bowron; Iris L Gonzalez; Sarah J Groves; Ruth Newbury-Ecob; Nicol Clayton; Robin P Martin; Beverly Tsai-Goodman; Vanessa Garratt; Michael Ashworth; Valerie M Bowen; Katherine R McCurdy; Michaela K Damin; Carolyn T Spencer; Matthew J Toth; Richard I Kelley; Colin G Steward
Journal:  Orphanet J Rare Dis       Date:  2013-02-12       Impact factor: 4.123

Review 5.  Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach.

Authors:  Stacey Reynolds
Journal:  J Multidiscip Healthc       Date:  2015-07-29

6.  Late diagnosis of Barth syndrome in a 39-year-old patient with non-compaction cardiomyopathy and neutropenia.

Authors:  Andreas Seitz; Annely Hinck; Raffi Bekeredjian; Udo Sechtem
Journal:  ESC Heart Fail       Date:  2020-01-22
  6 in total

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