Navegação Artigos de Periódicos por Assunto "Lysosomal storage disease"
Resultados 1-13 de 13
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Aspectos clínicos e patológicos da intoxicação por Sida carpinifolia (Malvaceae) em caprinos no Rio Grande do Sul.
(2002) [Artigo de periódico]Este trabalho inclui os estudos clínicos e patológicos da doença de armazenamento lisossomal induzida pelo consumo espontâneo de Sida carpinifolia. A enfermidade foi observada em três rebanhos, que juntos eram compostos ... -
Birth weight in patients with mucopolysaccharidosis type II : data from the Hunter Outcome Survey (HOS)
(2017) [Artigo 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 ... -
Doença do armazenamento lisossomal induzida pelo consumo de Sida carpinifolia em bovinos do Rio Grande do Sul
(2010) [Artigo de periódico]Relata-se a intoxicação natural por Sida carpinifolia (guanxuma, chá-da-índia) em bovinos no Rio Grande do Sul. Foram afetados cinco bovinos no período 2001- 2008. O quadro clínico foi caracterizado por emagrecimento, ... -
Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases
(2019) [Artigo 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) [Artigo 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) [Artigo 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 ... -
Hypomyelinogenesis associated with transplacental poisoning by Sida carpinifolia (Malvaceae) in fetus and newborn calves
(2018) [Artigo de periódico]Sida carpinifolia is a plant responsible for poisoning several species of animals. This paper describes Hypomyelinogenesis in fetuses and neonates of cattle that consumed S. carpinifolia. Neonates manifested ataxia and ... -
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) [Artigo 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, ... -
Intoxicação experimental por Sida carpinifolia (Malvaceae) em ovinos
(2005) [Artigo de periódico]Administrou-se Sida carpinifolia L.f. secada à sombra e moída, em doses diárias de 11 a 30g/kg/dia, para sete ovinos. Um animal foi encontrado morto aos 18 e outro morreu apresentando sinais clínicos aos 53 dias do início ... -
Neuronal ceroide lipofuscinose : a clinical and morphological study of 17 patients from southern Brazil
(2000) [Artigo 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 ... -
Pathological findings in fetuses of goats and cattle poisoned by Sida carpinifolia (Malvaceae)
(2012) [Artigo de periódico]In Brazil, the consumption of Sida carpinifolia by livestock has been associated with neurological diseases linked to lysosomal storage disorders. This paper describes the pathological indings in two caprine fetuses from ... -
Phenotype-oriented NGS panels for mucopolysaccharidoses : validation and potential use in the diagnostic flowchart
(2019) [Artigo 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 ... -
Spontaneous poisoning by Sida carpinifolia (Malvaceae) in horses
(2017) [Artigo de periódico]Sida carpinifolia poisoning causes a chronic neurodegenerative disorder associated with lysosomal storage by indolizidine alkaloids (swainsonine). The epidemiological, clinical, pathological and lectin histochemistry ...