Doença de Niemann Pick tipo B: relato de caso [PDF]
Introduction: Niemann-Pick Disease (NPD) is a rare genetic condition, an autosomal recessive disorder, that can be identified by the acid sphingomyelinase deficiency, which leads to the buildup of sphingomyelin on lysosomes.
Amoedo, Bianca Gomes Estevez
core
Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency [PDF]
, 2023 Spada, Marco
core +1 more source
Clinical Pharmacology &Therapeutics, Volume 115, Issue 1, Page 25-28, January 2024.
Vincent Lemaire +4 more
wiley +1 more source
Lysosomal diseases : overview on current diagnosis and treatment [PDF]
, 2019 Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function.
Baldo, Guilherme +8 more
core
Clinical development and marketing application review times for novel orphan-designated drugs [PDF]
Development of an orphan-designated drug has been more challenging and financially less attractive than that of other drugs due to low prevalence of the condition, poorly defined biomarkers and lack of experience of healthcare providers in diagnosing and
Ebru Demirci +2 more
core +1 more source
Investigation of Vesicular-Mediated Transport of Intercellular Adhesion Molecule-1-Targeted Carriers for Treatment of Lysosomal Storage Disorders [PDF]
, 2017 Numerous cellular processes and therapeutic interventions rely on vesicular-mediated endocytosis to gain entry into cells and sub-cellular compartments, as well as for transcellular transport across biological barriers such as found at the blood-brain ...
Manthe, Rachel Lee
core +1 more source
Opportunities for nanomaterials in enzyme therapy [PDF]
In recent years, enzyme therapy strategies have rapidly evolved to catalyze essential biochemical reactions with therapeutic potential. These approaches hold particular promise in addressing rare genetic disorders, cancer treatment, neurodegenerative ...
Torres-Herrero, Beatriz +5 more
core +1 more source
Triagem neonatal para doenças lisossômicas em amostras de sangue impregnado em papel filtro [PDF]
, 2018 Introdução: As doenças lisossômicas (DL) são um grupo de condições caracterizadas por um defeito genético que leva à deficiência de enzimas ou proteínas lisossômicas. Pacientes com DL usualmente acumulam nos tecidos e órgãos os substratos (não degradados
Bender, Fernanda
core
ERS International Congress 2023: highlights from the Interstitial Lung Diseases Assembly [PDF]
This article summarises a selection of scientific highlights in the field of interstitial lung diseases (ILDs) presented at the International Congress of the European Respiratory Society in 2023.
Antoniou, Katerina +15 more
core
Background: Chronic graft-versus-host disease (cGVHD) is a rare and serious complication following allogeneic hematopoietic cell transplantation and a major cause of long-term morbidity and mortality.
Bermúdez, Arancha +7 more
core +1 more source