Apolipoprotein A-I Mimetics for the Treatment of Niemann-Pick Disease [PDF]
, 2020 Niemann-Pick disease (NPD) is a fatal lipid storage disorder that results in an accumulation of unesterified cholesterol (type C) or sphingomyelin (types A and B) in late endosomes and lysosomes.
Fawaz, Maria
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Avaliação e validação da utilidade clínica do sequenciamento de nova geração (NGS) para confirmação do diagnóstico de doenças lisossômicas selecionadas [PDF]
, 2018 Introdução: As doenças lisossômicas (DLs) são patologias genéticas que, apesar de serem classificadas como raras, acometem uma significativa porcentagem da população.
Málaga, Diana Elizabeth Rojas
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Olipudase alfa for the treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30months [PDF]
Molecular Genetics and Metabolism, 2017 Ana Cristina Puga +7 more
openaire +1 more source
Developing novel screening assays and therapeutics for Niemann-Pick disease [PDF]
In this thesis, screening assays, and compounds with potential therapeutic effects were developed and analysed for use in Niemann-Pick disease.
Fenn, Gareth
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El sistema glucocorticoide en la patología y terapia de la deficiencia de esfingomielinasa ácida [PDF]
Tesis Doctoral inédita leída en la Universidad Autónoma de Madrid, Facultad de Ciencias, Departamento de Biología Molecular. Fecha de Lectura: 14-02-2025La deficiencia de esfingomielinasa ácida (ASMD) es una enfermedad rara causada por mutaciones en el ...
Naya Forcano, Sara
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Impact of Diffusing Lung Capacity for Carbon Monoxide on Mortality Risk in Patients with ASMD: Insights from a Post Hoc Analysis. [PDF]
Adv TherWuyts WA +7 more
europepmc +1 more source
Access to anticancer and orphan medicines through compassionate use programs and named patient basis in seven European countries. [PDF]
ESMO OpenRosenberg N +7 more
europepmc +1 more source