Publications by authors named "Samuela Fernandes"
Article Synopsis
- * The Undiagnosed Diseases Network (UDN) aims to improve diagnosis rates and research participation among these groups, but a review of 2235 participants shows underrepresentation of Hispanic and Black non-Hispanic individuals compared to the broader U.S. population.
- * Diagnosis rates varied by ethnicity, with higher rates for Asian non-Hispanic (39.5%) and Hispanic (35.3%) groups, while White non-Hispanic participants had the lowest at 26.8%; however, differences in diagnostic yields were not significant when controlling for factors like age and disease phenotype. *
Objective: Since the introduction of enzyme replacement therapy (ERT) with alglucosidase alfa, there has been increased survival in patients with Pompe disease. It is essential to characterize and quantify the burden of disease in these patients. Here, we report a measure of muscle fat infiltration in children with infantile and pediatric late-onset Pompe disease (IPD and LOPD, respectively) to better understand the extent of muscle involvement.
View Article and Find Full Text PDFIntroduction: Liver Glycogen Storage Disease Type IX (GSD IX) is one of the most common forms of GSD. It is caused by a deficiency in enzyme phosphorylase kinase (PhK), a complex, hetero-tetrameric enzyme comprised of four subunits - α, β, γ, and δ - each with tissue specific isoforms encoded by different genes. Until the recent availability of gene panels and exome sequencing, the diagnosis of liver GSD IX did not allow for differentiation of these subtypes.
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