Orphanet Journal of Rare Diseases | Global Research Landscape of Inborn Errors of Immunity: A Bibliometric Analysis (1991–2025)

Orphanet Journal of Rare Diseases | Clinical Features and Nicotinamide Treatment Outcomes in NAD(P)HX Deficiency Disorders

Orphanet Journal of Rare Diseases | Clinical Significance and Minimal Important Difference of BSITD-III in Developmental Assessment of Children with Neuronopathic MPS II

Orphanet Journal of Rare Diseases | Austrian Consensus Study on Pompe Disease Follow-up Assessment

Orphanet Journal of Rare Diseases | Applications of Metabolomics in Screening and Diagnosis of Inherited Metabolic Disorders

Orphanet Journal of Rare Diseases | Association Between Emotional Dysregulation and Alexithymia in Adult Patients with Hereditary Angioedema

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