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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 Diseases-Regulating Neurodegeneration
Journal of Experimental Neuroscience, 2015 Autophagy is a complex pathway regulated by numerous signaling events that recycles macromolecules and can be perturbed in lysosomal storage diseases (LSDs). The concept of LSDs, which are characterized by aberrant, excessive storage of cellular material
Rob U. Onyenwoke, Jay E. Brenman
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Journal of Inborn Errors of Metabolism and Screening, 2014 Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules.
Joseph Alroy DVM, DACVP +1 more
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Biomarkers in Lysosomal Storage Diseases
Diseases, 2016 A biomarker is generally an analyte that indicates the presence and/or extent of a biological process, which is in itself usually directly linked to the clinical manifestations and outcome of a particular disease. The biomarkers in the field of lysosomal
Joaquin Bobillo Lobato +2 more
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Lysosomes, Lysosomal Storage Diseases, and Inflammation
Journal of Inborn Errors of Metabolism and Screening, 2016 Lysosomes were originally described in the early 1950s by de Duve who was also the first to recognize the importance of these organelles in human disease.
Calogera M. Simonaro PhD
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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 diseases: difficulties in differintial diagnosis
Фундаментальная и клиническая медицина, 2019 Inherited metabolic disorders represent a heterogeneous group of diseases which are difficult to be diagnosed in pediatric and therapeutic practice. Theirclinical symptoms are non-specific and common.
T. Y. Pomytkina, A. Y. Davydova
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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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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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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
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