Navegação Ciências da Saúde por Assunto "Lysosomal storage disorder"
Resultados 1-7 de 7
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Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy
(2020) [Artigo de periódico]Background: Acid sphingomyelinase deficiency (ASMD) also known as Niemann-Pick disease, is a rare lysosomal storage disorder with a diverse disease spectrum that includes slowly progressive, chronic visceral (type B) and ... -
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
(2017) [Artigo de periódico]Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in ... -
Experience of the NPC Brazil network with a comprehensive program for the screening and diagnosis of Niemann-Pick disease type C
(2022) [Artigo de periódico]Niemann-Pick disease type C (NPC) is a lysosomal disorder caused by impaired cholesterol metabolism. Levels of lysosphingomyelin 509 (LysoSM509) have been shown elevated in dried blood spots (DBS) of NPC and acid ... -
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome) : a review and classification of GALNS gene variants and reporting of 68 novel variants
(2021) [Artigo de periódico]Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected, analyzed, and uniformly ... -
Mucopolysaccharidosis VII in Brazil : natural history and clinical findings
(2021) [Artigo de periódico]Background: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by defciency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications ... -
Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders
(2017) [Artigo de periódico]Totally implantable vascular access devices (TIVADs) are commonly used in conjunction with enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs). This case series describes potential complications associated ... -
Transient high-level expression of B-galactosidase after transfection of fibroplasts from GM1 gangliosidosis patients with plasmid DNA
(2008) [Artigo de periódico]GM1 gangliosidosis is an autosomal recessive disorder caused by the deficiency of lysosomal acid hydrolase ß-galactosidase (ß-Gal). It is one of the most frequent lysosomal storage disorders in Brazil, with an estimated ...
