Latest Research in Lysosomal Storage Disorders Research
34 research papers · 2026 median publication year
Top Research Topics in Lysosomal Storage Disorders Research
- Lysosomal Storage Disorders Research — 3 papers
- Genetic Neurodegenerative Diseases — 2 papers
- Genetic and Kidney Cyst Diseases — 2 papers
- Alkaline Phosphatase Research Studies — 2 papers
- Connective tissue disorders research — 2 papers
- Myasthenia Gravis and Thymoma — 2 papers
- Cholesterol and Lipid Metabolism — 1 papers
- Biotin and Related Studies — 1 papers
- Cervical and Thoracic Myelopathy — 1 papers
- Atherosclerosis and Cardiovascular Diseases — 1 papers
Highest-Cited Papers
- Tangier Disease
- Cramps as the initial presentation of CANVAS/RFC1-related disorder
- Late onset biotinidase deficiency presenting with optic neuropathy and multifocal motor neuropathy phenotype: a case report and literature review
- Involvement of Reduced ENPP1 Function in the Pathogenesis of Ossification of the Posterior Longitudinal Ligament
- Plasma autoantibodies as novel risk markers for stroke: A nested case-control study of the JPHC study
- Progressive dilated cardiomyopathy in a patient with previously unrecognized Klinefelter syndrome: a case report
- Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients
- Beyond Sequencing: Integrating MLPA Reveals Hidden Structural PKD2 Variants and Enhances Mutation Detection in a Highly Selected ADPKD Greek Cohort
- Tissue-nonspecific alkaline phosphatase deficiency is associated with altered immune cell profiles in hypophosphatasia
- Timely diagnosis of early-onset forms of metachromatic leukodystrophy: an Italian consensus study
- Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman
- Glycoproteomics and Functional Characterization of Novel Variants in Siblings with ALG1-CDG
- A Combination of Alleles in LMOD2 and a lncRNA is Strongly Associated With Myxomatous Mitral Valve Disease in Cavalier King Charles Spaniels
- Comment on the Cerebral Astrocytic Inclusion Pathology in Multiple System Atrophy With a Long Clinical Course
- Clinical Variability of Classical Ehlers–Danlos Syndrome: A Family with Rare COL5A1 Variant and Case-Based Review
- Urine-Derived Cells in Kidney Transplantation: Linking Cellular Phenotypes, Secretome Signatures and Multi-Omic Technologies
- Autoimmune pernicious anemia in clinically diagnosed Bardet–Biedl syndrome: a case report and brief literature review
- Treatment updates in myotonic disorders
- Fabry Disease: Integrating Molecular Pathophysiology, Precision Diagnosis, and Artificial Intelligence Toward Precision Medicine
- Role of Local Growth Plate Mechanisms and Systemic Endocrine Signals in X-Linked Hypophosphatemia (XLH) Impaired Linear Growth