Categoría: Orphanet Journal of Rare Diseases
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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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Expanding the cardiac phenotype of homozygous PPA2 variants: insights from a large Finnish family
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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Clinical, genetic, neuroimaging, and severity spectrum of peroxisomal disorders in Iran: a multicenter cohort study
Background Methods Results Conclusions …
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Development and clinical application of CAPAH: a long-read sequencing approach for accurate second-tier screening of phenylketonuria in newborns
Background Method Results Conclusion …
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Development and clinical application of CAPAH: a long-read sequencing approach for accurate second-tier screening of phenylketonuria in newborns
Background Method Results Conclusion …
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Clinical, genetic, neuroimaging, and severity spectrum of peroxisomal disorders in Iran: a multicenter cohort study
Background Methods Results Conclusions …