Patient and family experience with Transthyretin Amyloid Cardiomyopathy (ATTR-CM) and Polyneuropathy (ATTR-PN) Amyloidosis: Results of two focus groups
Changes in PCSK 9 and Apolipoprotein B100 in Niemann-Pick Disease After Enzyme Replacement Therapy with Olipudase Alfa
Release of pseudosyndactyly in recessive dystrophic epidermolysis bullosa using a dermal regeneration template glove – the Foggia experience.
Results of a Patient Reported Experience Measure (PREM) to measure the rare disease patients and caregivers experience: A Spanish cross-sectional study
Mutation Profile of Collagen VI-Related Myopathy in Japan
Quantitative Evaluation of Upright Posture by X-Ray and 3D Stereophotogrammetry With an Original Marker Placement Protocol in Late Onset Pompe Disease.
Etoposide as an Effective Drug for Adult Macrophage Activation Syndrome: A Retrospective Study
Impacts and Burden of Niemann Pick Type-C: A Patient and Caregiver Perspective
A Twins Case of Lissencephaly With GPR56 Compound Heterozygous Mutations and Literatures Review
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status
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