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Immunochemistry of Lysosomal Storage Disorders [PDF]
Clinical Chemistry, 2006 Abstract Background: Lysosomal storage disorders are a group of genetic diseases, each with a broad spectrum of clinical presentation that ranges from attenuated to severe. The immunochemical analysis of patient samples is aimed at several key aspects of patient management, including early detection of the disorder, prediction of ...
Parkinson-Lawrence, E. +4 more
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Prevalence of Lysosomal Storage Disorders [PDF]
JAMA, 1999 Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited diseases. Individually, these disorders are considered rare, although high prevalence values have been reported in some populations. These disorders are devastating for individuals and their families and result in considerable use of ...
Meikle, P. +3 more
openaire +4 more sources
Lysosomal Storage Diseases: Heterogeneous Group of Disorders [PDF]
BioImpacts, 2013 The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes.
David A. Wenger +2 more
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Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches [PDF]
Biomolecules, 2021 Lysosomal storage disorders (LSDs) are a group of 60 rare inherited diseases characterized by a heterogeneous spectrum of clinical symptoms, ranging from severe intellectual disabilities, cardiac abnormalities, visceromegaly, and bone deformities to ...
Enrico Moro
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The Role of Exosomes in Lysosomal Storage Disorders
Biomolecules, 2021 Exosomes, small membrane-bound organelles formed from endosomal membranes, represent a heterogenous source of biological and pathological biomarkers capturing the metabolic status of a cell.
Adenrele M. Gleason +3 more
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Biomarkers for gene therapy clinical trials of lysosomal storage disorders [PDF]
Molecular Therapy: Lysosomal storage disorders (LSDs) are multisystemic progressive disorders caused by defects in proteins involved in lysosomal function. Different gene therapy strategies are under clinical investigation in several LSDs to overcome the limitations of ...
Alessandro Rossi +2 more
exaly +3 more sources
Cells, 2021 Lysosomal storage disorders (LSDs) are rare, monogenic diseases characterized by aberrant lysosomes with storage material [...]
Ritva Tikkanen
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The Link Between Lysosomal Storage Disorders and More Common Diseases
Journal of Inborn Errors of Metabolism and Screening, 2016 In the last decades, it has become more and more evident that lysosomal storage disorders and common neurodegenerative diseases such as Alzheimer and Parkinson diseases have clinical, neuropathological, and genetic features in common, including lysosomal
Michael Beck MD
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Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation
Molecular Genetics and Metabolism Reports, 2020 Background: The common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães.
Olga Azevedo +12 more
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ARE ENZYME REPLACEMENT THERAPIES EFFECTIVE AGAINST LYSOSOMAL STORAGE DISORDERS?
Gomal Journal of Medical Sciences, 2021 Lysosomal storage disorders are an agglomeration of genetic disorders such as Fabry disease, Gaucher disease, Pompe disease, Krabbe’s disease and mucopolysaccharidosis that typically impairs the prime orangs of humans, including brain, heart ...
Taimoor Hassan, Xu Huadong
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