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Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I.
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey.
A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders.
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.