Categoría: Orphanet Journal of Rare Diseases
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Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay
Background Methods Results Conclusions …
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Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN): integrating epidemiological insights with diagnostic and therapeutic progress
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Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience
Background Results Conclusions Clinical trial number
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Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay
Background Methods Results Conclusions …
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Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience
Background Results Conclusions Clinical trial number
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The molecular spectrum of alpha- and beta-thalassemia pathogenic variants in Indonesia: implications for national screening and prevention
Background Methods Results Conclusions …
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The molecular spectrum of alpha- and beta-thalassemia pathogenic variants in Indonesia: implications for national screening and prevention
Background Methods Results Conclusions …
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From amino acids to animal models: MAP2K2 mutations and their role in pathogenesis of CFC4 Syndrome
Background Main body Conclusions Graphical A…