Spinal muscular atrophy as a challenge for the healthcare system: diagnosis, treatment, and family support
Introduction. Spinal muscular atrophy (SMA) is a rare inherited disorder characterised by progressive motor neuron degeneration an…
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Molecular and genetic mechanisms of thrombophilia: a review of key markers and their functional significance
Introduction. Inherited thrombophilia in children comprises a heterogeneous group of genetically determined hemostatic disorders w…