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Lysosomal storage disorders

2015
The lysosomal storage disorders (LSD) are genetic diseases caused by deficiency of lysosomal enzymesor other lysosomal proteins that result in chronic and progressive storage of undegraded substrates thatare frequently present in the central nervous system.
BARONE, RITA MARIA ELISA, PARINI R.
openaire   +3 more sources

Lysosomal Storage Disorders and Iron

2013
Lysosomal storage disorders are a group of about 50 rare metabolic diseases that result from defects in lysosomal function. The majority is recessively inherited and caused by mutations in genes encoding lysosomal proteins as the basis for its pathobiology.
openaire   +2 more sources

Lysosomal storage disorders

2017
The lysosomal storage disorders (LSDs) are a group of inborn organelle disorders, clinically heterogeneous, and biochemically characterized by accumulation of nondegraded macromolecules primarily in the lysosomal and other cellular compartments. Given the common and essential cellular function of the lysosomal system in different organs and systems ...
openaire   +2 more sources

Epigenetics: Future Prospective in Human Disorders and Therapeutics

Medical Epigenetics, 2021
Shriram N Rajpathak
exaly  

Metals and Lysosomal Storage Disorders

2017
Henna Konttinen   +3 more
openaire   +1 more source

Lysosomal storage disorders.

2023
Allison Fairchild, Melina Islas
openaire   +1 more source

Liposomal Formulations for Treating Lysosomal Storage Disorders

Advanced Drug Delivery Reviews, 2022
Aida Carreño   +2 more
exaly  

Prevalence of Patients With Lysosomal Storage Disorders and Peroxisomal Disorders: A Nationwide Survey in Japan

Molecular Genetics and Metabolism, 2021
Ritei Uehara   +2 more
exaly  

Neonatal Screening for Lysosomal Storage Disorders: Feasibility and Incidence From a Nationwide Study in Austria

Lancet, The, 2012
Thomas Mechtler   +2 more
exaly  

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