Listar Ciencias de la Salud por tema "Lysosomal storage disease"
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Birth weight in patients with mucopolysaccharidosis type II : data from the Hunter Outcome Survey (HOS)
(2017) [Artículo de periódico]There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 ... -
Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases
(2019) [Artículo de periódico]Lysosomal storage diseases (LSDs) are inherited conditions caused by impaired lysosomal function and consequent substrate storage, leading to a range of clinical manifestations, including cardiovascular disease. This may ... -
Evaluation of the long-term treatment efects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling : data from the Hunter Outcome Survey (HOS)
(2021) [Artículo de periódico]Background: Mucopolysaccharidosis II (MPS II; Hunter syndrome) is a rare, life-limiting lysosomal storage disease caused by defcient iduronate-2-sulfatase activity. Enzyme replacement therapy (ERT) with intravenous (IV) ... -
Genotype-phenotype relationships in mucopolysaccharidosistype I (MPS I) : insights from the International MPS I Registry
(2019) [Artículo de periódico]Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resultingfrom pathogenic variants in theα-L-iduronidase (IDUA) gene. Clinical phenotypesrange from severe (Hurler syndrome) to attenuated ... -
Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases : a survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries
(2021) [Artículo de periódico]the needs of their healthcare providers were explored using a 12-question survey. Overall, 80/91 respondents (88%) indicated that the pandemic had negatively affected standards of care. With increased reliance on tele-medicine, ... -
Neuronal ceroide lipofuscinose : a clinical and morphological study of 17 patients from southern Brazil
(2000) [Artículo de periódico]The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood. Three main childhood forms can be established on the basis of age of ... -
Phenotype-oriented NGS panels for mucopolysaccharidoses : validation and potential use in the diagnostic flowchart
(2019) [Artículo de periódico]Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of ...