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Implementing evolving Fabry disease management recommendations in resource-constrained settings: lessons from South Africa
Ago 12, 2026
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Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
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The homozygous long variant of 5-HTT gene in congenital central hypoventilation syndrome is associated with a modified resting CO2 set point
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Development and clinical application of CAPAH: a long-read sequencing approach for accurate second-tier screening of phenylketonuria in newborns
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