Biomechanical and histological characterization of MPS I mice femurs

Ferreira, Nicole Yolanda; Nascimento, Cinthia Castro do; Pereira, Vanessa Gonçalves; Oliveira, Flávia de; Medalha, Carla Cristina; Silva, Vanessa Cavalcante da; D’Almeida, Vânia

doi:10.1016/j.acthis.2020.151678

Cited by 4 publications

(2 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Therefore, defects in elastic fiber assembly in MPS I have been attributed to DS accumulation 86 . Biomechanical studies on MPS I mouse bones indeed showed decreased elasticity and lower maximum load values (measured by the ability to bear weight) 87 …”

Section: Challenges In Treating Mps I Bone Disease: Pathophysiologymentioning

confidence: 97%

See 1 more Smart Citation

MPS I: Early diagnosis, bone disease and treatment, where are we now?

Kingma

Jonckheere

2021

J of Inher Metab Disea

View full text Add to dashboard Cite

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder characterized by α‐L‐iduronidase deficiency. Patients present with a broad spectrum of disease severity ranging from the most severe phenotype (Hurler) with devastating neurocognitive decline, bone disease and early death to intermediate (Hurler‐Scheie) and more attenuated (Scheie) phenotypes, with a normal life expectancy. The most severely affected patients are preferably treated with hematopoietic stem cell transplantation, which halts the neurocognitive decline. Patients with more attenuated phenotypes are treated with enzyme replacement therapy. There are several challenges to be met in the treatment of MPS I patients. First, to optimize outcome, early recognition of the disease and clinical phenotype is needed to guide decisions on therapeutic strategies. Second, there is thus far no effective treatment available for MPS I bone disease. The pathophysiological mechanisms behind bone disease are largely unknown, limiting the development of effective therapeutic strategies. This article is a state of the art that comprehensively discusses three of the most urgent open issues in MPS I: early diagnosis of MPS I patients, pathophysiology of MPS I bone disease, and emerging therapeutic strategies for MPS I bone disease.

show abstract

Section: Challenges In Treating Mps I Bone Disease: Pathophysiologymentioning

confidence: 97%

“…86 Biomechanical studies on MPS I mouse bones indeed showed decreased elasticity and lower maximum load values (measured by the ability to bear weight). 87…”

Section: Elastogenesismentioning

confidence: 99%