Latest Research in Lysosomal Storage Disorders Research
7 research papers · 2026 median publication year
Top Research Topics in Lysosomal Storage Disorders Research
- Lysosomal Storage Disorders Research — 1 papers
- Iron Metabolism and Disorders — 1 papers
- Amino Acid Enzymes and Metabolism — 1 papers
- Protein Tyrosine Phosphatases — 1 papers
- Genomics and Rare Diseases — 1 papers
- Hereditary Neurological Disorders — 1 papers
- Diet and metabolism studies — 1 papers
Highest-Cited Papers
- Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients
- Targeted next-generation sequencing in the molecular diagnosis of hereditary hemochromatosis
- Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy
- Long-read sequencing resolves compound heterozygosity arising from a de novo and a maternally mosaic HSPG2 variant in Schwartz-Jampel syndrome type 1
- A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome
- A phase III clinical trial of PXT3003 in Chinese patients with Charcot-Marie-Tooth disease type 1A
- Glucose Transporter Deficiency Syndrome Type 1 (Glut1‐ DS ): New Insights From a Brazilian Cohort of Patients