Results 11 to 20 of about 84,505 (291)
Nature Reviews Disease Primers, 2018 Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare but collectively affect 1 in 5,000 live births. LSDs typically present in infancy and childhood, although adult-onset forms also occur.
Platt, F +4 more
exaly +7 more sources
The Amyloid Inhibitor CLR01 Relieves Autophagy and Ameliorates Neuropathology in a Severe Lysosomal Storage Disease. [PDF]
Mol Ther, 2020 Monaco A +13 more
europepmc +2 more sources
Orphanet Journal of Rare Diseases, 2021 Over the past three decades the lysosomal storage diseases have served as model for rare disease treatment development. While these efforts have led to considerable success, important challenges remain.
Edward H. Schuchman +2 more
doaj +1 more source
Niemann Pick disease: a rare lysosomal storage disease
Bangabandhu Sheikh Mujib Medical University Journal, 2023 Niemann Pick Disease (NPD) is a rare autosomal recessive lysosomal storage disease characterized by lysosomal lipid storage. The disease is caused by deficiency of enzyme, acid sphingomyelinase (ASM) which leads to accumulation of sphingomyelin & other ...
Gopen Kumar Kundu +8 more
doaj +1 more source
CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE [PDF]
Romanian Journal of Pediatrics, 2017 Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases.
Alina-Costina Luca, Elena Braha
doaj +1 more source
Acta Neuropathologica Communications, 2023 Loss of function progranulin (GRN) mutations are a major autosomal dominant cause of frontotemporal dementia (FTD). Patients with FTD due to GRN mutations (FTD-GRN) develop frontotemporal lobar degeneration with TDP-43 pathology type A (FTLD-TDP type A ...
Skylar E. Davis +20 more
doaj +1 more source
Lysosomal Lipid Storage Diseases [PDF]
Cold Spring Harbor Perspectives in Biology, 2011 Lysosomal lipid storage diseases, or lipidoses, are inherited metabolic disorders in which typically lipids accumulate in cells and tissues. Complex lipids, such as glycosphingolipids, are constitutively degraded within the endolysosomal system by soluble hydrolytic enzymes with the help of lipid binding proteins in a sequential manner.
Schulze, H., Sandhoff, K.
openaire +2 more sources
Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq
Advanced Medical Journal, 2023 Background and objectives:The lysosomal lipid storage diseases are diverse disorders each due to an inherited deficiency of a lysosomal hydrolase enzyme leading to the intralysosomal accumulation of the enzyme’s particular substrate; each catabolic step,
Chenar Omer Ali Al-Jaf +4 more
doaj +1 more source
Translational Science of Rare Diseases, 2016 Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses,
Ferreira, Carlos R., Gahl, William A.
openaire +5 more sources
Lysosomal acid lipase deficiency in a 6-year-old child: case report
Archives of the Balkan Medical Union, 2020 Introduction. Cholesteryl ester storage disease or lysosomal acid lipase deficiency is a rare severe congenital enzyme pathology of lysosomal storage disorders.
Oleksandra SHULHAI +2 more
doaj +1 more source