Categoría: Articulos
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Pregnancy in women with inherited metabolic disorders: maternal and offspring outcomes with long-term follow-up
Background Methods Results Conclusion …
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Genetic spectrum, retinal phenotypes, and visual function in female carriers of RPGR
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Hemoglobinopathy diagnosis in LMICs: from hematological screening to molecular confirmation
Hemoglobinopathy diagnosis in low- and middle-income countries (LMICs) is limited not only by access to technology but also by attrition between screening, phenotypic resolution, molecular confirmation, counseling, and linkage to care. India illustrate…
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Longitudinal characterization of a Leigh-like presentation associated with the MT-ND4 m.11470A>C variant
Leigh syndrome comprises genetically heterogeneous mitochondrial disorders, but interpretation of rare mitochondrial DNA variants is often limited by sparse longitudinal data. We report a male patient followed from childhood to age 16 with the MT-ND4 m…
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Urinary mevalonate excretion: a specific and sensitive screening test for mevalonate kinase deficiency
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Post-marketing vascular ectasia and regional bleeding reports with sotatercept in pulmonary arterial hypertension: a disease-restricted active-comparator pharmacovigilance study
Background Results Conclusions Clinical tria…
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Study of COVID-19 outcomes in patients with rare diseases in Germany [SCOPE-RD], part 2
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Six Chinese children with type 2 congenital generalized lipodystrophy: clinical features and follow-up
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Clinical trials on rare diseases in Austria 2011–2021: a study using the orphanet database
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Evaluation of the risk of renal cell carcinoma and other cancers in individuals with MITF p.E318K in a large single-institution cohort
The MITF p.E318K pathogenic variant (PV) is well-established as a melanoma risk factor and has been proposed as a genetic risk factor for renal cell carcinoma (RCC). The initial report of RCC in individuals with MITF p.E318K was published in 2011 based…