Categoría: Orphanet Journal of Rare Diseases
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Clinical characteristics and variant spectrum of NF1 in Chinese patients with neurofibromatosis type 1: a cross-sectional study
Background Methods Results Conclusions …
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Navigating regulatory scenarios for accelerating drug repurposing in rare diseases: a multi-stakeholder perspective on the challenges and opportunities
Background Results Conclusions Clinical tria…
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Navigating regulatory scenarios for accelerating drug repurposing in rare diseases: a multi-stakeholder perspective on the challenges and opportunities
Background Results Conclusions Clinical tria…
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Expanding the cardiac phenotype of homozygous PPA2 variants: insights from a large Finnish family
Background Methods Results Conclusions …
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Transplantation as disease modifying therapy in the era of gene therapy medicinal products – health policy considerations
Background Methods Results Conclusions
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Novel heterozygous truncating variant in TUBB associated with thrombocytopaenia and neurological abnormalities
Background Results Conclusions
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Improving molecular diagnosis of fabry disease: functional validation of novel splicing variants in GLA
Background Methods Results Conclusions …
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Knowledge and awareness of rare diseases among healthcare professionals: a scoping review
Background Methods Results Conclusion …
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Improving molecular diagnosis of fabry disease: functional validation of novel splicing variants in GLA
Background Methods Results Conclusions …
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Transplantation as disease modifying therapy in the era of gene therapy medicinal products – health policy considerations
Background Methods Results Conclusions