Navegação Ciências da Saúde por Autor "Clarke, Lorne A."
Resultados 1-3 de 3
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Genotype-phenotype relationships in mucopolysaccharidosistype I (MPS I) : insights from the International MPS I Registry
Clarke, Lorne A.; Giugliani, Roberto; Guffon, Nathalie; Jones, Simon A.; Keenan, Hillary; Munõz Rojas, Maria Verônica; Okuyama, Torayuki; Viskochil, David H.; Whitley, Chester B.; Wijburg, Frits; Muenzer, Joseph (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 ... -
Therapy development for the mucopolysaccharidoses : updated consensus recommendations for neuropsychological endpoints
Van der Lee, Johanna Hanneke; Morton, Jonathan; Adams, Heather R.; Clarke, Lorne A.; Eisengart, Julie B.; Escolar, Maria Luisa; Giugliani, Roberto; Harmatz, Paul; Hogan, Melissa; Kearney, Shauna; Muenzer, Joseph; Muschol, Nicole; Rust, Stewart; Saville, Benjamin R.; Semrud-Clikeman, Margaret T.; Wang, Raymond Y.; Shapiro, Elsa G. (2020) [Artigo de periódico]Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential ... -
Understanding the early presentation of mucopolysaccharidoses disorders : results of a systematic literature review and physician survey
Clarke, Lorne A.; Wijburg, Frits; Giugliani, Roberto (2018) [Artigo de periódico]As therapies are developed for rare disorders, challenges of early diagnosis become particularly relevant. This article focuses on clinical recognition of mucopolysaccharidoses (MPS), a group of rare genetic diseases related ...