Characterization of the MPS I-H knock-in mouse reveals increased femoral biomechanical integrity with compromised material strength and altered bone geometry.
Publication/Presentation Date
12-1-2015
Abstract
Mucopolysaccharidosis type I (MPS I), is an autosomal recessive lysosomal storage disorder caused by a deficiency in the α-L-iduronidase enzyme, resulting in decreased enzymatic activity and accumulation of glycosaminoglycans. The disorder phenotypically manifests with increased urine glycosaminoglycan excretion, facial dysmorphology, neuropathology, cardiac manifestations, and bone deformities. While the development of new treatment strategies have shown promise in attenuating many symptoms associated with the disorder, the bone phenotype remains unresponsive. The aim of this study was to investigate and further characterize the skeletal manifestations of the
Volume
5
First Page
3
Last Page
11
ISSN
2214-4269
Published In/Presented At
Oestreich, A. K., Garcia, M. R., Yao, X., Pfeiffer, F. M., Nobakhti, S., Shefelbine, S. J., Wang, Y., Brodeur, A. C., & Phillips, C. L. (2015). Characterization of the MPS I-H knock-in mouse reveals increased femoral biomechanical integrity with compromised material strength and altered bone geometry. Molecular genetics and metabolism reports, 5, 3–11. https://doi.org/10.1016/j.ymgmr.2015.08.004
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
28649535
Department(s)
Department of Pediatrics
Document Type
Article