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Progressive Hand Stiffness and Numbness in a Child: An Atypical Neurological Presentation of Scheie Syndrome-A Case Report. [PDF]

Neurol Int
Alharthi AS, Hassan CI, Alsharkawy AA, Alzahrani SDS, Alzahrani SA.   +4 more
europepmc   +1 more source

The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases. [PDF]

Prog Neurobiol
Lane-Donovan C, Paredes M, Kao AW.
europepmc   +1 more source

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Lysosomal Storage Disorders

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, 2014
Lysosomal storage disorders (LSDs) are genetic defects caused by lysosomal hydrolase deficiencies. These deficiencies lead to substrate accumulation affecting cells, tissues and organs. Detecting abnormal compound excretion and deficient enzymes assist diagnosis of these disorders for treatment and prevention.
G.M. Pastores, D.A. Hughes
  +5 more sources

Lysosomal Storage Disorders

2021
Abstract Lysosomes are membrane-bound organelles that degrade various macromolecules. Lysosomal storage diseases are a clinically, enzymatically, and genetically heterogeneous group of disorders resulting from intracellular accumulation of substrates.
Angela Sun, Irene J. Chang, Christina Lam, Gerard T. Berry   +3 more
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Lysosomal Biogenesis in Lysosomal Storage Disorders

Experimental Cell Research, 1997
Lysosomal biogenesis is an orchestration of the structural and functional elements of the lysosome to form an integrated organelle and involves the synthesis, targeting, functional residence, and turnover of the proteins that comprise the lysosome. We have investigated lysosomal biogenesis during the formation and dissipation of storage vacuoles in two
Karageorgos, L., Isaac, E., Brooks, D., Ravenscroft, E., Davey, R., Hopwood, J., Meikle, P.   +6 more
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Sphingolipid lysosomal storage disorders

Nature, 2014
Lysosomal storage diseases are inborn errors of metabolism, the hallmark of which is the accumulation, or storage, of macromolecules in the late endocytic system. They are monogenic disorders that occur at a collective frequency of 1 in 5,000 live births and are caused by inherited defects in genes that mainly encode lysosomal proteins, most commonly ...
openaire   +2 more sources