# Lysosomal Storage Disorders Research
**Type:** Topics
**Canonical URL:** https://scholariq.org/topics/lysosomal-storage-disorders-research/
## Facts
| Field | Value |
| --- | --- |
| Description | 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. |
| Domain | Health Sciences |
| Field | Medicine |
| OpenAlex ID | t10945 |
| Works | 115 |
## Topic papers all
Showing 15 of 115.
- [Parkinson's disease](https://scholariq.org/papers/parkinson-s-disease/)
- [Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease](https://scholariq.org/papers/multicenter-analysis-of-glucocerebrosidase-mutations-in-parkinson-s-disease/)
- [Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin](https://scholariq.org/papers/mitochondrial-dysfunction-in-drosophila-pink1-mutants-is-complemented-by-parkin/)
- [Enzyme Replacement Therapy in Fabry Disease](https://scholariq.org/papers/enzyme-replacement-therapy-in-fabry-disease/)
- [Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia](https://scholariq.org/papers/mutations-in-the-endosomal-escrtiii-complex-subunit-chmp2b-in-frontotemporal/)
- [Glycosyl-Phosphatidylinositol Moiety That Anchors Trypanosoma brucei Variant Surface Glycoprotein to the Membrane](https://scholariq.org/papers/glycosyl-phosphatidylinositol-moiety-that-anchors-i-trypanosoma-brucei-i-variant/)
- [Fabry disease revisited: Management and treatment recommendations for adult patients](https://scholariq.org/papers/fabry-disease-revisited-management-and-treatment-recommendations-for-adult/)
- [The structure, biosynthesis and functions of glycosylphosphatidylinositol anchors, and the contributions of trypanosome research](https://scholariq.org/papers/the-structure-biosynthesis-and-functions-of-glycosylphosphatidylinositol-anchors/)
- [Agalsidase-Beta Therapy for Advanced Fabry Disease](https://scholariq.org/papers/agalsidase-beta-therapy-for-advanced-fabry-disease/)
- [Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat](https://scholariq.org/papers/treatment-of-fabry-s-disease-with-the-pharmacologic-chaperone-migalastat/)
- [Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease](https://scholariq.org/papers/comprehensive-rare-variant-analysis-via-whole-genome-sequencing-to-determine-the/)
- [Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy](https://scholariq.org/papers/long-term-effects-of-enzyme-replacement-therapy-on-fabry-cardiomyopathy/)
- [Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease](https://scholariq.org/papers/excessive-burden-of-lysosomal-storage-disorder-gene-variants-in-parkinson-s/)
- [Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy](https://scholariq.org/papers/loss-of-vps13c-function-in-autosomal-recessive-parkinsonism-causes-mitochondrial/)
- [Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase β Therapy in Patients with Fabry Disease](https://scholariq.org/papers/sustained-long-term-renal-stabilization-after-54-months-of-agalsidase-therapy-in/)
## Topic primary papers
Showing 15 of 70.
- [Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease](https://scholariq.org/papers/multicenter-analysis-of-glucocerebrosidase-mutations-in-parkinson-s-disease/)
- [Enzyme Replacement Therapy in Fabry Disease](https://scholariq.org/papers/enzyme-replacement-therapy-in-fabry-disease/)
- [Fabry disease revisited: Management and treatment recommendations for adult patients](https://scholariq.org/papers/fabry-disease-revisited-management-and-treatment-recommendations-for-adult/)
- [Agalsidase-Beta Therapy for Advanced Fabry Disease](https://scholariq.org/papers/agalsidase-beta-therapy-for-advanced-fabry-disease/)
- [Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat](https://scholariq.org/papers/treatment-of-fabry-s-disease-with-the-pharmacologic-chaperone-migalastat/)
- [Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy](https://scholariq.org/papers/long-term-effects-of-enzyme-replacement-therapy-on-fabry-cardiomyopathy/)
- [Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease](https://scholariq.org/papers/excessive-burden-of-lysosomal-storage-disorder-gene-variants-in-parkinson-s/)
- [Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase β Therapy in Patients with Fabry Disease](https://scholariq.org/papers/sustained-long-term-renal-stabilization-after-54-months-of-agalsidase-therapy-in/)
- [Cathepsin D Deficiency Induces Lysosomal Storage with Ceroid Lipofuscin in Mouse CNS Neurons](https://scholariq.org/papers/cathepsin-d-deficiency-induces-lysosomal-storage-with-ceroid-lipofuscin-in-mouse/)
- [Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study](https://scholariq.org/papers/oral-pharmacological-chaperone-migalastat-compared-with-enzyme-replacement/)
- [Differential effects of severe vs mild GBA mutations on Parkinson disease](https://scholariq.org/papers/differential-effects-of-severe-vs-mild-i-gba-i-mutations-on-parkinson-disease/)
- [Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human α-Glucosidase From Milk](https://scholariq.org/papers/long-term-intravenous-treatment-of-pompe-disease-with-recombinant-human/)
- [Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document](https://scholariq.org/papers/recommendations-for-initiation-and-cessation-of-enzyme-replacement-therapy-in/)
- [Recombinant human α-glucosidase from rabbit milk in Pompe patients](https://scholariq.org/papers/recombinant-human-glucosidase-from-rabbit-milk-in-pompe-patients/)
- [Mucopolysaccharidosis VI](https://scholariq.org/papers/mucopolysaccharidosis-vi/)
---
Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.