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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
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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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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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Lysosomal Storage Disorders in the Newborn [PDF]
Pediatrics, 2009 Lysosomal storage disorders are rare inborn errors of metabolism, with a combined incidence of 1 in 1500 to 7000 live births. These relatively rare disorders are seldom considered when evaluating a sick newborn. A significant number of the >50 different lysosomal storage disorders, however, do manifest in the neonatal period and should be part ...
Orna, Staretz-Chacham +4 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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Pregnancy Outcomes in Late Onset Pompe Disease
Life, 2020 There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function ...
Ozlem Goker-Alpan +7 more
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