New targets for monitoring and therapy in Barth syndrome.
W Reid ThompsonBrittany DeCroesRebecca McClellanJessica RubensFrédéric M VazKara KristaponisDimitrios AvramopoulosHilary J VernonPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
We defined previously unrecognized metabolite/phenotype/genotype relationships, established targets for therapeutic monitoring, and validated avenues for clinical assessment. In addition to providing insight into BTHS, these studies also provide insight into the myriad of multifactorial disorders that converge on the cardiolipin pathway.Genet Med 18 10, 1001-1010.