Listar Artículos de Periódicos por tema "lysosome"
Mostrando ítems 1-2 de 2
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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 ... -
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients
(2022) [Artículo de periódico]GM2 and GM1 gangliosidoses are genetic, neurodegenerative lysosomal sphingolipid storage disorders. The earlier the age of onset, the more severe the clinical presentation and progression, with infantile, juvenile and ...