Opportunities for an early recognition of spinal muscular atrophy in primary care: a nationwide, population-based, study in Italy.

Lorenzo Maggi,Gianluca Vita, Ettore Marconi,Daiana Taddeo,Michele Davì,Valeria Lovato,Claudio Cricelli,Francesco Lapi

Family practice（2023）

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摘要

Our findings suggest that primary care databases may be used to enhance the early identification of SMA. Additional efforts are needed to exploit the electronic health records of general practitioners to allow early recognition of SMA.

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关键词

nested case–control study,primary care,rare disease,spinal muscular atrophy

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