Results 21 to 30 of about 3,656,183 (130)
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
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Orphanet Journal of Rare Diseases, 2020 Background Mucopolysaccharidosis (MPS) IVA, also known as Morquio A syndrome, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase.
Can Ficicioglu +5 more
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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.
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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.
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A new framework for evaluating the health impacts of treatment for Gaucher disease type 1
Orphanet Journal of Rare Diseases, 2017 Background The Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed a new framework, consisting of health states, transition probabilities between those states, and preferences ...
Michael L. Ganz +6 more
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Clarifying lysosomal storage diseases [PDF]
Trends in Neurosciences, 2011 Lysosomal storage diseases (LSDs) are a class of metabolic disorders caused by mutations in proteins critical for lysosomal function. Such proteins include lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.
Mark L, Schultz +3 more
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Molecular Genetics and Metabolism Reports, 2017 Early initiation of enzyme replacement therapy (ERT) has demonstrated clinical benefit in patients with mucopolysaccharidosis type VI (MPS VI), a progressive, multisystem autosomal recessive lysosomal disorder caused by N-acetylgalactosamine-4-sulphatase
Mahoko Furujo +2 more
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Heliyon, 2021 Mucopolysaccharidoses (MPSs) are a heterogeneous group of diseases that have in common the accumulation of glycosaminoglycans (mucopolysaccharides) within the lysosome.
Luis M. Carbajal-Rodríguez +4 more
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Astrocytes and lysosomal storage diseases [PDF]
Neuroscience, 2016 Lysosomal storage diseases (LSDs) encompass a wide range of disorders characterized by inborn errors of lysosomal function. The majority of LSDs result from genetic defects in lysosomal enzymes, although some arise from mutations in lysosomal proteins that lack known enzymatic activity.
K V, Rama Rao, T, Kielian
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Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases [PDF]
, 2013 Lysosomal storage diseases are inherited metabolic disorders caused by genetic defects causing deficiency of various lysosomal proteins, and resultant accumulation of non-degraded compounds.
Grzegorz Węgrzyn +11 more
core +2 more sources