Categoría: Articulos
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Expanding the clinical spectrum of recessive CRX-associated retinal disease: an early-onset retinal dystrophy phenotype
Objective Methods Results Conclusion …
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AI-assisted recognition of misdiagnosed paroxysmal nocturnal hemoglobinuria
Background Results Conclusions
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Molecular characterization and pathogenicity stratification of YWHAG missense variants in developmental and epileptic encephalopathy
BackgroundVariants in YWHAG cause severe developmental and epileptic encephalopathy (DEE) with early-onset seizures. Rapid and precise clinical classification of its missense variants presents a substantial challenge. This study sought to explore YWHAG…
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Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study
IntroductionFabry disease is a progressive, X-linked lysosomal disorder caused by GLA variants that result in dysfunctional α-galactosidase A (α-Gal A) enzyme. One treatment option is migalastat, an oral small-molecule pharmacological chaperone treatme…
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Clinical management of metachromatic leukodystrophy cases identified in the German and Austrian Newborn screening pilots
Background Methods Results Conclusion