Literature DB >> 9358581

Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome.

E H Cardonick1, K Kuhlman, E Ganz, L T Pagotto.   

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Year:  1997        PMID： 9358581     DOI： 10.1002/(sici)1097-0223(199710)17:10<983::aid-pd174>3.0.co;2-0

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  7 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.  Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

Authors:  Charlotte Thiels; Martin Fleger; Martina Huemer; Richard J Rodenburg; Frederic M Vaz; Riekelt H Houtkooper; Tobias B Haack; Holger Prokisch; René G Feichtinger; Thomas Lücke; Johannes A Mayr; Saskia B Wortmann
Journal:  JIMD Rep       Date:  2016-01-03

Review 3.  X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).

Authors:  P G Barth; R J Wanders; P Vreken; E A Janssen; J Lam; F Baas
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

Review 4.  Cellular functions of cardiolipin in yeast.

Authors:  Amit S Joshi; Jingming Zhou; Vishal M Gohil; Shuliang Chen; Miriam L Greenberg
Journal:  Biochim Biophys Acta       Date:  2008-08-07

5.  Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.

Authors:  C G Steward; R A Newbury-Ecob; R Hastings; S F Smithson; B Tsai-Goodman; O W Quarrell; W Kulik; R Wanders; M Pennock; M Williams; J L Cresswell; I L Gonzalez; P Brennan
Journal:  Prenat Diagn       Date:  2010-10       Impact factor: 3.050

6.  Extended recovery of cardiac function after severe infantile cardiomyopathy presentation of Barth syndrome.

Authors:  Jessie Yester; Brian Feingold
Journal:  JIMD Rep       Date:  2021-12-28

Review 7.  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
  7 in total

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