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Pseudo-dominant Wilson disease with an unresolved third-generation ATP7B finding

Microglia replacement in CSF1R-associated microgliopathy: from preclinical rationale to emerging clinical evidence

AAV9.LAMP2B gene therapy for Danon disease: from early clinical experience to evolving safety and trial design considerations

Receptor-mediated brain delivery in MPS II: a platform turning point for rare disease therapeutics

Multidisciplinary management of concurrent hypogonadism, diabetes, and hypothyroidism in Woodhouse-Sakati syndrome: a case report and preliminary clinical management experience

Beyond copper retention: a dynamic flux-compartment-response model of Wilson disease

Transcriptional adaptation opens new therapeutic possibilities for Duchenne muscular dystrophy and rare neuromuscular diseases

Advances in the application of deep learning in computed tomography imaging analysis of rare lung diseases

Immunotherapeutic advances for the treatment of osteosarcoma, driven by studies in pet dogs with spontaneous disease

Computational modelling of cerebrospinal fluid flow in a translational canine model

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