Orphanet Journal of Rare Diseases | Predicting Hepatic Adenoma Risk in Glycogen Storage Disease Patients Using Biomarkers and Imaging Parameters

Orphanet Journal of Rare Diseases | A qualitative study on health-related quality of life in children and adolescents with hypohidrotic ectodermal dysplasia

Orphanet Journal of Rare Diseases | Challenges in Renal Management of Enamel Renal Syndrome Caused by FAM20A Mutations

Orphanet Journal of Rare Diseases | Prevalence of Avoidant/Restrictive Food Intake Disorder (ARFID) Symptoms in Children and Adolescents with Rare Diseases

Orphanet Journal of Rare Diseases | Survey on Diagnostic Pathways and Care Status of CMT Patients in Germany

Orphanet Journal of Rare Diseases | Nutritional Assessment and Health Risks of Special Low-Protein Foods: A Narrative Review

Intractable & Rare Diseases Research | Progress in the Research and Pharmacoeconomic Evaluation of Drugs and Devices for Rare Diseases in China

Orphanet Journal of Rare Diseases | Recessive Congenital Methemoglobinemia: A Systematic Review and Genotype–Phenotype Correlation Analysis