Publications by authors named "Samuela Fernandes"

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Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Nicholas A Borja, Rory J Tinker, Stephanie A Bivona, Carson A Smith, Theodore Krijnse Locker, Samuela Fernandes

Am J Med Genet A· February 2025

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Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease.
Samuela A Fernandes, Aleena A Khan, Tracy Boggs, Michael Bowling, Stephanie Austin

JIMD Rep· January 2021

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Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX.
Samuela A Fernandes, Gabrielle E Cooper, Rebecca Anne Gibson, Priya S Kishnani

Mol Genet Metab· November 2020

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Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease.
Harrison N Jones, Samuela Fernandes, William B Hannah, Sujay Kansagra, Eileen M Raynor

Mol Genet Metab Rep· June 2020

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