专题:Lysosomal Storage Disorders Research

This cluster of papers explores the diverse aspects of lysosomal storage disorders, including enzyme replacement therapy, genetic mutations, and the impact on various diseases such as Gaucher disease, Fabry disease, Niemann-Pick disease, and Parkinson's disease. It also delves into the underlying mechanisms related to cholesterol metabolism and neuronal ceroid lipofuscinoses.
最新文献
Stage-specific MCM protein expression in Trypanosoma cruzi: insights into metacyclogenesis and G1 arrested epimastigotes

article Full Text OpenAlex

Clinical, diagnostic and therapeutic aspects of Mauriac syndrome, a complication of type 1 diabetes mellitus: A systematic review

review Full Text OpenAlex

FUT10 and FUT11 as Novel <i>O</i>-fucosyltransferases

article Full Text OpenAlex

FUT10 and FUT11 as Novel <i>O</i>-fucosyltransferases

article Full Text OpenAlex

Evolution of Cardiac Damage Staged With Echocardiography in Fabry Disease

article Full Text OpenAlex

The Impact of WIfI Clinical Stage on Amputation Prediction Modeling for Patients With CLTI in the VQI Database

article Full Text OpenAlex

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

review Full Text OpenAlex

Alglucosidase-alfa/avalglucosidase-alfa

article Full Text OpenAlex

Healthcare utilization and disease burden in children with metachromatic leukodystrophy in Germany

article Full Text OpenAlex

Protocol for in vivo tracking of lipoproteins in developing oocytes of multiple species of Chagas disease vectors using fluorescent probes

article Full Text OpenAlex

近5年高被引文献
Parkinson's disease

review Full Text OpenAlex 2254 FWCI70.381

Prodromal Parkinson disease subtypes — key to understanding heterogeneity

review Full Text OpenAlex 280 FWCI9.123

A phosphoinositide signalling pathway mediates rapid lysosomal repair

article Full Text OpenAlex 221 FWCI33.471

Cardiac Involvement in Fabry Disease

review Full Text OpenAlex 215 FWCI6.901

A Comprehensive Review: Sphingolipid Metabolism and Implications of Disruption in Sphingolipid Homeostasis

review Full Text OpenAlex 203 FWCI4.857

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access

article Full Text OpenAlex 201 FWCI35.628

The rapidly evolving view of lysosomal storage diseases

review Full Text OpenAlex 176 FWCI5.786

Preclinical and clinical evaluation of the LRRK2 inhibitor DNL201 for Parkinson’s disease

article Full Text OpenAlex 173 FWCI28.829

Parkinson's Disease Genetics and Pathophysiology

review Full Text OpenAlex 160 FWCI5.312

PINK1/Parkin-mediated mitophagy in neurodegenerative diseases

review Full Text OpenAlex 159 FWCI8.885