Results 41 to 50 of about 3,656,183 (130)

Lysosomal storage disease overview [PDF]

Annals of Translational Medicine, 2018
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation ...
openaire   +2 more sources

Adults with lysosomal storage diseases in the undiagnosed diseases network

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   +1 more source

Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region

مجلة الكوفة الطبية
Background and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
doaj   +1 more source

Epidemiology of lysosomal storage diseases in Sweden

, 2014
There are more than 50 inherited lysosomal storage diseases (LSDs), and this study examined the incidence of clinically diagnosed LSDs in ...
Malin Hult, von Döbeln, Ulrika, Ulrika von Döbeln, Darin, Niklas,, Niklas Darin, Jan‐Eric Månsson, Hult, Malin,, Månsson, Jan-Eric,, von, Dobeln U, Hult, M, Mansson, J-E, Darin, N   +11 more
core   +1 more source

The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. [PDF]

, 2012
Lysosomal storage diseases (LSDs) are a family of disorders that result from inherited gene mutations that perturb lysosomal homeostasis. LSDs mainly stem from deficiencies in lysosomal enzymes, but also in some non-enzymatic lysosomal proteins, which ...
Barry Boland, Aarnoud C. van der Spoel, Boland, B., Platt, F. M., van der Spoel, A. C., Frances M. Platt   +5 more
core   +1 more source

Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches [PDF]

, 2021
Lysosomal storage disorders (LSDs) are a group of 60 rare inherited diseases characterized by a heterogeneous spectrum of clinical symptoms, ranging from severe intellectual disabilities, cardiac abnormalities, visceromegaly, and bone deformities to ...
Enrico Moro, Moro E.
core   +1 more source

Consensus position statement for the diagnosis and treatment of lysosomal storage diseases with neurological manifestations

Българска неврология, 2023
Lysosomal storage diseases involve about 50 rare genetic metabolic diseases engaging  various mutations/pathological variants that cause enzyme deficiency and lysosomal  dysfunction due to accumulation of certain substrates in them: lipids, glycoproteins,
Ivan Milanov, Ivailo Tournev, Veneta Bozhinova   +2 more
doaj  

Sphingolipid lysosomal storage diseases: from bench to bedside

Lipids in Health and Disease, 2021
Johann Ludwig Wilhelm Thudicum described sphingolipids (SLs) in the late nineteenth century, but it was only in the past fifty years that SL research surged in importance and applicability.
Muna Abed Rabbo, Yara Khodour, Laurie S. Kaguni, Johnny Stiban   +3 more
doaj   +1 more source

Lysosomal storage diseases: from pathophysiology to therapy.

, 2015
Lysosomal storage diseases are a group of rare, inborn, metabolic errors characterized by deficiencies in normal lysosomal function and by intralysosomal accumulation of undegraded substrates.
BALLABIO, ANDREA, PARENTI, GIANCARLO, Andria G   +2 more
core   +1 more source

The Role of Exosomes in Lysosomal Storage Disorders

Biomolecules, 2021
Exosomes, small membrane-bound organelles formed from endosomal membranes, represent a heterogenous source of biological and pathological biomarkers capturing the metabolic status of a cell.
Adenrele M. Gleason, Elizabeth G. Woo, Cindy McKinney, Ellen Sidransky   +3 more
doaj   +1 more source