Literature DB >> 14654353

Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study.

Simone Rugolotto1, Maria D Prioli, Daniela Toniolo, PierAntonio Pellegrino, Susanna Catuogno, Alberto B Burlina.   

Abstract

We report on three patients (two are brothers) with confirmed Barth syndrome treated with pantothenic acid. This treatment is still controversial and only one study has reported positive results to date. In our patients, long-term treatment has failed to reduce the number of infectious episodes and prevent dilated cardiomyopathy. Our cases show that this treatment is not as effective in Barth syndrome as was previously claimed.

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Year:  2003        PMID： 14654353     DOI： 10.1016/j.ymgme.2003.07.002

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  6 in total

Review 1.  Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.

Authors:  Ting-Yu Yen; Wuh-Liang Hwu; Yin-Hsiu Chien; Mei-Hwan Wu; Ming-Tai Lin; Lon-Yen Tsao; Wu-Shiun Hsieh; Ni-Chung Lee
Journal:  Eur J Pediatr       Date:  2007-09-11       Impact factor: 3.183

2.  Tafazzin deficiency impairs CoA-dependent oxidative metabolism in cardiac mitochondria.

Authors:  Catherine H Le; Lindsay G Benage; Kalyn S Specht; Lance C Li Puma; Christopher M Mulligan; Adam L Heuberger; Jessica E Prenni; Steven M Claypool; Kathryn C Chatfield; Genevieve C Sparagna; Adam J Chicco
Journal:  J Biol Chem       Date:  2020-07-14       Impact factor: 5.157

Review 3.  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

4.  Natural history of Barth syndrome: a national cohort study of 22 patients.

Authors:  Charlotte Rigaud; Anne-Sophie Lebre; Renaud Touraine; Blandine Beaupain; Chris Ottolenghi; Allel Chabli; Helene Ansquer; Hulya Ozsahin; Sylvie Di Filippo; Pascale De Lonlay; Betina Borm; Francois Rivier; Marie-Catherine Vaillant; Michèle Mathieu-Dramard; Alice Goldenberg; Géraldine Viot; Philippe Charron; Marlene Rio; Damien Bonnet; Jean Donadieu
Journal:  Orphanet J Rare Dis       Date:  2013-05-08       Impact factor: 4.123

Review 5.  The Pathophysiological Role of CoA.

Authors:  Aleksandra Czumaj; Sylwia Szrok-Jurga; Areta Hebanowska; Jacek Turyn; Julian Swierczynski; Tomasz Sledzinski; Ewa Stelmanska
Journal:  Int J Mol Sci       Date:  2020-11-28       Impact factor: 5.923

Review 6.  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
  6 in total

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