Orphanet Journal of Rare Diseases | Research on Interventions for Pitt-Hopkins Syndrome: Clinical Challenges and Evidence Gaps

Orphanet Journal of Rare Diseases | A Nationwide Study on Psychological Symptoms in Spinal Muscular Atrophy (SMA) Patients and Their Caregivers

Orphanet Journal of Rare Diseases | Impact of Anti-Drug Antibodies on the Efficacy and Safety of Enzyme Replacement Therapy in Fabry Disease

Orphanet Journal of Rare Diseases | Liver Transplantation and Gene Therapy in Inherited Metabolic Diseases: Health Policy Considerations

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | Sleep patterns and glycemia in adults with Cystic Fibrosis-Related Diabetes: a remote pilot study

Orphanet Journal of Rare Diseases | Oscillometry Reveals Expiratory Phase Lung Function Abnormalities in Patients with Late-Onset Pompe Disease

Orphanet Journal of Rare Diseases | Assessing Cardiometabolic Risk Using the Lipid- and BMI-Based SPISE Index in Pediatric Bardet-Biedl Syndrome

Orphanet Journal of Rare Diseases | Defining the Therapeutic Corridor of Stability in Enzyme Replacement Therapy for Pompe Disease