Diagnostic challenges and new therapies for rare lysosomal storage diseases

MeSH terms

• Case Management
• Causality
• Disease Management
• Disease Progression
• Fabry Disease / diagnosis*
• Fabry Disease / epidemiology
• Fabry Disease / etiology
• Fabry Disease / therapy*
• Humans
• Isoenzymes / therapeutic use
• Mucopolysaccharidosis I / diagnosis*
• Mucopolysaccharidosis I / epidemiology
• Mucopolysaccharidosis I / etiology
• Mucopolysaccharidosis I / therapy*
• Orphan Drug Production
• Rare Diseases / diagnosis*
• Rare Diseases / epidemiology
• Rare Diseases / etiology
• Rare Diseases / therapy*
• Time Factors
• United States / epidemiology
• alpha-Galactosidase / therapeutic use