Abstract Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly
syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare …

Consanguineous marriages have been practiced for thousands of years in many
communities throughout the world. Birth defects contribute significantly to infant mortality rate …

Several studies have been published on the frequency of the mucopolysaccharidoses
(MPS) in different countries. The objective of the present study was to estimate the birth …

The aim of this paper is to present a database of isolated communities (CENISO) with high
prevalence of genetic disorders or congenital anomalies in Brazil. We used two strategies to …

Abstract Mucopolysaccharidosis type VI (MPS VI-Maroteaux-Lamy syndrome) is a globally
rare lysosomal storage disease caused by a deficiency of arylsulfatase B. However, in …

Este trabalho objetivou avaliar as competências de leitura, interpretação de texto e
resolução de problemas de um material didático criado para pesquisa epidemiológica …

Dystrophinopathies are muscle diseases caused by pathogenic variants in DMD, the largest
gene described in humans, representing a spectrum of diseases ranging from asymptomatic …

Severe combined immunodeficiency, SCID, is a pediatric emergency that represents the
most critical group of inborn errors of immunity (IEI). Affected infants present with early onset …

Biallelic loss of function of IMPA1 causes autosomal recessive intellectual developmental
disorder 59 (MRT59, OMIM# 617323). MRT59 has been reported to present with significant …

Background Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence
of which is estimated to be low (1 per million). Nevertheless, in recent years we have found …