On 2014 Aug 06, Matthew Toth commented:

This paper is a wonderful example of how understanding the pathophysiology of a rare disease can lead to specific treatments and how this can increase our knowledge of cellular biology and metabolism. It is a very dense paper that presents a lot of data including a unique visual example of one of the symptoms of this rare disease. I encourage all who are interested in Barth syndrome to visit the BSF website (www.barthsyndrome.org) and read the paper in its full length.

On 2014 Aug 06, Matthew Toth commented:

This paper is a wonderful example of how understanding the pathophysiology of a rare disease can lead to specific treatments and how this can increase our knowledge of cellular biology and metabolism. It is a very dense paper that presents a lot of data including a unique visual example of one of the symptoms of this rare disease. I encourage all who are interested in Barth syndrome to visit the BSF website (www.barthsyndrome.org) and read the paper in its full length.