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The rapidly evolving view of lysosomal storage diseases
EMBO Molecular Medicine, 2021 Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex ...
Giancarlo Parenti +2 more
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Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship [PDF]
Egyptian Journal of Medical Human Genetics, 2022 Background We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship.
Heba Saed El-Amawy, Heba Dawoud
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Adults with lysosomal storage diseases in the undiagnosed diseases network [PDF]
Molecular Genetics & Genomic Medicine, 2022 Objectives To review the referral and clinical characteristics of adult patients diagnosed with lysosomal storage diseases (LSD) through the Undiagnosed Diseases Network (UDN).
Changrui Xiao +7 more
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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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SnapShot: Lysosomal Storage Diseases. [PDF]
Cell, 2020 Lysosomal storage diseases (LSDs) represent a group of monogenic inherited metabolic disorders characterized by the progressive accumulation of undegraded substrates inside lysosomes, resulting in aberrant lysosomal activity and homeostasis. This SnapShot summarizes the intracellular localization and function of proteins implicated in LSDs.
Martina JA, Raben N, Puertollano R.
europepmc +3 more sources
Lysosomal Storage Disease [PDF]
Journal of Nepal Medical Association, 2009 We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year oldboy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in allfour limbs with hyper-refl exia. On fundus examination cherry red spots were noted at macula.
Binod Khatiwada, A Pokharel
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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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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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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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