Results 21 to 30 of about 38,108 (242)

Lysosomal positioning diseases: beyond substrate storage

Open Biology, 2022
Lysosomal storage diseases (LSDs) comprise a group of inherited monogenic disorders characterized by lysosomal dysfunctions due to undegraded substrate accumulation.
Gianluca Scerra, Valeria De Pasquale, Melania Scarcella, Maria Gabriella Caporaso, Luigi Michele Pavone, Massimo D'Agostino   +5 more
doaj   +3 more sources

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
doaj   +2 more sources

Lysosomal Storage Diseases

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, Jeremiah A. Lyons MVB, PhD, DACVP   +1 more
doaj   +4 more sources

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, Mary Koziura, Heidi Cope, Rebecca Spillman, Khoon Tan, Fuki M. Hisama, Cynthia J. Tifft, Camilo Toro   +7 more
doaj   +2 more sources

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

Highlights on Genomics Applications for Lysosomal Storage Diseases

Cells, 2020
Lysosomal storage diseases (LSDs) are a heterogeneous group of rare multisystem genetic disorders occurring mostly in infancy and childhood, characterized by a gradual accumulation of non-degraded substrates inside the lysosome.
Valentina La Cognata, Maria Guarnaccia, Agata Polizzi, Martino Ruggieri, Sebastiano Cavallaro   +4 more
doaj   +3 more sources

Lysosomal storage diseases

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 1995
V Gieselmann
exaly   +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
openaire   +5 more sources

The emerging role and clinicopathological significance of MFSD12 in cancer and lysosomal storage diseases [PDF]

Frontiers in Pharmacology
Liqiong Ding
exaly   +2 more sources

New paradigms for the treatment of lysosomal storage diseases: targeting the endocannabinoid system as a therapeutic strategy

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, Maria D. Ledesma, Calogera M. Simonaro   +2 more
doaj   +1 more source