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Diagnosis and therapy of Niemann-Pick disease type C1- what have we learned that can help veterinary patients?

Primary sclerosing encapsulating peritonitis with cryptorchidism in an older man: case report and literature review

Complex LDLR mutations in Taiwanese familial hypercholesterolemia

From ebola to feline infectious peritonitis: the cross-species journey of GS-441524 and the future of antiviral translation

Rare pituitary diseases in dogs and cats and their human companions

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