Navegação Artigos de Periódicos por Assunto "Lysosomal storage disorders"
Resultados 1-4 de 4
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A case report on the challenging diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2)
(2020) [Artigo de periódico]Neuronal ceroid lipofuscinoses (NCLs), also referred as “Batten disease”, are a group of thirteen rare genetic conditions, which are part of the lysosomal storage disorders. CLN type 2 (CLN2) is caused by the deficient ... -
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide
(2021) [Artigo de periódico]Background: Lysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifesta‑ tions and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement ... -
Effect of dimethylsufoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts
(1999) [Artigo de periódico]Niemann-Pick type C (NPC) fibroblasts present a large concentration of cholesterol in their cytoplasm due to a still unidentified deficiency in cholesterol metabolism. The influence of dimethylsulfoxide (DMSO) on the amount ... -
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
(2019) [Artigo de periódico]Lysosomal storage disorders (LSDs) constitute a heterogeneous group of approximately 50 genetic disorders. LSDs diagnosis is challenging due to variability in phenotype penetrance, similar clinical manifestations, and a ...