Therapeutic advances in rare disease

Evaluation of muscle microvascular perfusion in primary mitochondrial disease by contrast-enhanced ultrasound: Feasibility study.

Pub Date : 2026-09-07 DOI: 10.1177/26330040261486870 Laith R Sultan, Trudy A Morgan, Daniel E McGinn, Kassa Darge, Liya Gendler, Jie Nguyen, Elizabeth Brennan, Julie A Brother, Rui Xiao, Marni J Falk, Vinay Nadkarni, Harry Ischiropoulos, Jose A Adams, Zarazuela Zolkipli Cunningham

Addressing unmet needs in rare diseases: A patient-centred vision through INFORM-RD.

Pub Date : 2026-09-07 DOI: 10.1177/26330040261486869 Kenji Demesure, Lien Beckers, Wendy Vansteenkiste, Ruxanda Berlinschi, Alessandra Blonda, Fabienne Dobbels, Elja Eskes, Marion Delcroix, Isabelle Huys

Endothelial-mitochondrial coupling in mitochondrial disease: A systematic review and quantitative synthesis of vascular, biochemical, and oxidative bioenergetic dysfunction.

Pub Date : 2026-09-04 DOI: 10.1177/26330040261480132 Jose A Adams, Tiffany Ko, Laith R Sultan, Tejas Sarna, Daniel McGinn, Arkady Uryash, Jose R Lopez, Vinay Nadkarni, Rui Xiao, Marni J Falk, Harry Ischiropoulos, Zarazuela Zolkipli-Cunningham