Monitoring of Therapy for Mucopolysaccharidosis Type I Using Dysmorphometric Facial Phenotypic Signatures. Stefanie Kung, M Walters, P Claes, P LeSouef, J Goldblatt, A Martin, S Balasubramaniam, G Baynam.
Date: March 2015. Source: JIMD Reports 2015, Springer. Abstract: There is a pattern of progressive facial dysmorphology in mucopolysaccharidosis type I (MPS I). Advances in 3D facial imaging have facilitated the development of tools, including dysmorphometrics, to objectively and precisely detect these facial phenotypes. Therefore, we investigated the application of dysmorphometrics as a noninvasive therapy-monitoring…
Details