Results 231 to 240 of about 56,286 (316)

Lysosomal storage disorders [PDF]

The Indian Journal of Pediatrics, 1999
openaire   +1 more source

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang, Chunlan Deng, Xiaogang Guo, Hui Yan   +3 more
wiley   +1 more source

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility

Movement Disorders, EarlyView.
Abstract Background GBA1 variants cause Gaucher's disease (GD) in biallelic forms and increase Parkinson's disease (PD) risk in heterozygous carriers. Carriers of mild or severe variants (causing GD type 1 or types 2–3) can enroll in clinical trials, whereas those with GBA1 variants classified as unknown are typically excluded.
Sitki Cem Parlar, Yoomin Lee, Ziv Gan‐Or   +2 more
wiley   +1 more source

The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective. [PDF]

J Clin Med
Castaman G, Linari S, Barbato A, Costantino N, Dionisi-Vici C, Menni F, Procopio E, Ramat S, Torquati F, Verrecchia E, Scarpa M.   +10 more
europepmc   +1 more source

Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China [PDF]

, 2016
Xueru Chen, Wenjuan Qiu, Jun Ye, Lianshu Han, Xuefan Gu, Huiwen Zhang   +5 more
openalex   +1 more source

Nuclear Alpha‐Synuclein: Mechanisms and Implications for Synucleinopathies

Movement Disorders, EarlyView.
Abstract Alpha‐synuclein (aSyn), historically studied for its synaptic functions and central role in Lewy body pathology, is emerging as a protein with significant nuclear activities relevant to Parkinson's disease (PD) and related synucleinopathies. Recent advances reveal that aSyn dynamically localizes to neuronal nuclei in both health and disease ...
Tiago Fleming Outeiro, David J. Koss
wiley   +1 more source

Effect of Newborn Genomic Screening for Lysosomal Storage Disorders: A Randomized Clinical Trial in China [PDF]

Xin Wang, Yun Sun, Xian-Wei Guan, Yanyun Wang, Dongyang Hong, Zhilei Zhang, Yahong Li, Peiying Yang, Tao Jiang, Zhengfeng Xu   +9 more
openalex   +1 more source

Extracellular matrix components: An intricate network of possible biomarkers for lysosomal storage disorders? [PDF]

, 2013
Spyros Batzios, Dimitrios Zafeiriou, Eleni Papakonstantinou   +2 more
openalex   +1 more source

Uncovering the Complexity of Synucleinopathies: An Ongoing Tale Between Proteins and Lipids

Movement Disorders, EarlyView.
Abstract Neurodegenerative diseases are pathological states characterized by progressive alterations in brain homeostasis during aging. Synucleinopathies, including Parkinson's disease and dementia with Lewy bodies, are defined neuropathologically by the accumulation of inclusions known as Lewy bodies and Lewy neurites.
Manuel Flores‐León, Tiago F. Outeiro
wiley   +1 more source

Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns. [PDF]

Int J Neonatal Screen
Dantonio P, Klug T, Yazdanpanah G, Haynes C, Zhou H, Hopkins P, Vogt R, Lee R, Cuthbert C, Petritis K.   +9 more
europepmc   +1 more source