Publications by authors named "Jordao C Neto"
Background: Mucopolysaccharidosis (MPS) type I (MPS I), MPS type II (MPS II), and MPS type VI (MPS VI) are lysosomal storage disorders for which enzyme replacement therapy (ERT) is available.
Objective: The objective of this study was to evaluate the frequency of medical interventions in a cohort of patients with MPS I, II, and VI on ERT to estimate the impact of direct medical costs associated with the treatment of MPS and compare its frequency with that observed among patients not on ERT.
Methods: This was a multicenter study using a retrospective design including a convenience sampling of Brazilian patients with MPS I, II, and VI.
Source document verification in the Mucopolysaccharidosis Type I Registry.
Pharmacoepidemiol Drug Saf
July 2012
PURPOSE: The Mucopolysaccharidosis Type I (MPS I) Registry is an international observational database that tracks the natural history and the outcomes of patients with MPS I. The Registry was a regulatory requirement following the approval of laronidase enzyme replacement therapy for MPS I in 2003. All data are collected voluntarily after informed consent from the patient or family.
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- Autosomal-dominant brachydactyly type A2 (BDA2) is caused by mutations in BMP receptor or GDF5, but a study found a novel locus on chromosome 20p12.3 associated with BDA2 involving BMP2.
- High-density array CGH analysis revealed a 5.5 kb microduplication in a noncoding region downstream of BMP2, which was also found in another family, suggesting it could be a long-range regulatory element.
- Using transgenic mice, researchers showed that this duplicated region drives expression of Bmp2 in limbs, confirming it acts as a limb-specific enhancer and contributes to BDA2 pathology.