Orphanet Journal of Rare Diseases | CCL14 as a Novel Biomarker for Disease Progression in Lymphangioleiomyomatosis

Orphanet Journal of Rare Diseases | Multinational Survey of Caregivers for Hereditary Angioedema Patients Reveals Significant Psychological and Life Burden

Orphanet Journal of Rare Diseases | Clinical Characteristics, Genomic Profiling, Treatments, and Outcomes of Langerhans Cell Sarcoma

Orphanet Journal of Rare Diseases | Epidemiological Study of Idiopathic Pulmonary Fibrosis in Tuscany

Orphanet Journal of Rare Diseases | Multi-omics analysis of multiple chorangioma in monochorionic twins reveals a multi-step pathological mechanism

Orphanet Journal of Rare Diseases | A Novel Strategy for Patient-Reported Outcome Assessment in Alpha-Mannosidosis

Orphanet Journal of Rare Diseases | Impact of Enzyme Replacement Therapy on Gastrointestinal Symptoms in Late-Onset Pompe Disease

Orphanet Journal of Rare Diseases | Cost Analysis of Hospitalized Children with Suspected Rare Genetic Diseases: Direct and Indirect Cost Assessment in a Routine Genetic Testing Cohort