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Pediatric mesenteric lymphangioma leading to extensive small bowel torsion and transplant rescue: a case report

A validated disease severity scoring system predicts risk of fractures in treated adults with type 1 Gaucher disease

Rare disease preparedness: the time is now

Concerns for inclusive comprehensive neurofibromatosis care - looking at the LGBTQ+ community

Gut microbial dysbiosis in Gaucher disease: implications for associated complications

Phenotypic delineation of SET-related neurodevelopmental disorder: two case reports and literature review

Applications and prospects of machine learning in the diagnosis and treatment of SLE

Stem cell therapy for rare neurological diseases: translational research opportunities

Commentary on: ribozyme-activated RNA trans-ligation: an emerging strategy for large gene delivery in muscular dystrophies

Commentary on gait analysis in Duchenne muscular dystrophy: integrating contracture, strength, and kinematic perspectives

The critical importance of recognizing Gaucher disease in the fifth decade and beyond

Adeno-associated viral vector gene therapy for canine hemophilia