Browsing Health Sciences by Subject "Lysosomal storage diseases"
Now showing items 1-9 of 9
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Aplicação da biologia molecular no diagnóstico de doenças genéticas
(2001) [Journal article]Com os avanços da chamada Medicina Genômica, a análise molecular de doenças genéticas vem sendo cada vez mais necessária para a completa caracterização das alterações apresentadas por um indivíduo ou até mesmo essencial ... -
Clinical research challenges in rare genetic diseases in Brazil
(2019) [Journal article]Rare diseases are defined as conditions with a prevalence of no more than 6.5 per 10,000 people. Although each rare disease individually affects a small number of people, collectively, the 6,000 to 8,000 rare conditions ... -
Diagnostic and treatment strategies in mucopolysaccharidosis VI
(2015) [Journal article]Mucopolysaccharidosis VI (MPS VI) is a very rare autosomal recessive disorder caused by mutations in the ARSB gene, which lead to deficient activity of the lysosomal enzyme ASB. This enzyme is important for the breakdown ... -
Leukocyte imbalances in Mucopolysaccharidoses patients
(2023) [Journal article]Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic ... -
Lysosomal diseases : overview on current diagnosis and treatment
(2019) [Journal article]Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, ... -
Medicamentos de alto custo para doenças raras no Brasil : o exemplo das doenças lisossômicas
(2010) [Journal article]Este artigo aborda, de forma crítica, aspectos das políticas públicas brasileiras para medicamentos, com ênfase nos de alto custo dirigidos às doenças raras. As doenças lisossômicas foram utilizadas como exemplo pela sua ... -
Mucopolissacaridose tipo I em cão
(2021) [Journal article]Background: Mucopolysaccharidoses (MPS) are a group of rare illnesses caused by deficient activity of enzymes required for degradation of glycosaminoglycans (GAGs). Each type of MPS is caused by mutations in one of the ... -
Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: report from a reference laboratory
(2017) [Journal article]Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some ... -
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
(2021) [Journal article]The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, ...
