Výsledky vyhledávání - "Mihaela Stefanescu"

Akademický článek

Behavioral, social and school functioning in children with Pompe disease

Autor: Aditi Korlimarla, Gail A. Spiridigliozzi, Mihaela Stefanescu, Stephanie L. Austin, Priya S. Kishnani

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100635- (2020)

Purpose: To improve our understanding of the behavioral, social, and emotional functioning of children and adolescents with Pompe disease. Method: Parents/guardians of 21 children (age 5-18y) with infantile (IPD) or late-onset (LOPD) Pompe disease on

Externí odkaz: https://doaj.org/article/30d152ef2c5041d5847da7f10a01c777

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Akademický článek

External beam radiotherapy for head and neck cancers is associated with increased variability in retinal vascular oxygenation.

Autor: Daniel S Higginson, Alok Sahgal, Michael V Lawrence, Sarah Moyer, Mihaela Stefanescu, Adam K Willson, Bahjat Qaqish, Adam Zanation, Lawrence B Marks, Seema Garg, Bhishamjit S Chera

Publikováno v: PLoS ONE, Vol 8, Iss 8, p e69657 (2013)

Radiation retinopathy is a possible post-treatment complication of radiation therapy. The pathophysiologic mechanism is hypothesized to be microvascular in origin, but evidence is limited. In an effort to study retinal oxygenation in these patients,

Externí odkaz: https://doaj.org/article/ce9ef29032684bd38b90911d03bef4c7

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Novel approaches to quantify CNS involvement in children with Pompe disease

Autor: Michael D. Malinzak, Stephanie Austin, Kanecia O. Zimmerman, Kelly D. Crisp, Aditi Korlimarla, Gail A. Spiridigliozzi, Priya S. Kishnani, Mihaela Stefanescu, James M. Provenzale, Harrison N. Jones, Mrudu Herbert, Heidi Cope, Steven Chen

Publikováno v: Neurology

ObjectiveTo characterize the extent of CNS involvement in children with Pompe disease using brain MRI and developmental assessments.MethodsThe study included 14 children (ages 6–18 years) with infantile Pompe disease (IPD) (n = 12) or late-onset Po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c7092a055f48bc3ff6bf32f3ee95e17
https://europepmc.org/articles/PMC7455359/

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Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease

Autor: Aleena A. Khan, Stephanie Austin, Mihaela Stefanescu, Samuela A. Fernandes, Laura E. Case, Michael Bowling, Priya S. Kishnani, Tracy Boggs

Publikováno v: JIMD Reports

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add781a87e387a8a8cc0c6902ed78126
https://pubmed.ncbi.nlm.nih.gov/33473345

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Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up

Autor: Cindy Li, Priya S. Kishnani, Mihaela Stefanescu, Gail A. Spiridigliozzi, Stephanie Austin, Lori A. Keeling

Publikováno v: Molecular Genetics and Metabolism. 121:127-137

This study examines the long-term cognitive and academic outcomes of 11 individuals with infantile onset Pompe disease (IOPD) (median age = 11 years, 1 month, range = 5 years, 6 months through 17 years of age) treated with enzyme replacement therapy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f14cd3a8503f549101c0b0e1e2fd9dc8
https://doi.org/10.1016/j.ymgme.2017.04.014

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Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures

Autor: Mihaela Stefanescu, Michael Bowling, Aleena A. Khan, Priya S. Kishnani, Tracy Boggs, Stephanie Austin, Laura E. Case

Publikováno v: Journal of inherited metabolic diseaseREFERENCES. 43(3)

Whole-body magnetic resonance imaging (WBMRI) has clinical utility in measuring the amount of fatty infiltration in late-onset Pompe disease (LOPD). Muscle strength and function testing also provide valuable insight to the progression of myopathy see

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::787f9bd9c7f5b091fa8eef36cb41d028
https://pubmed.ncbi.nlm.nih.gov/31710733

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Elektronická kniha

Sustainability as a Trend for Competitiveness Challenges

Autor: Mihaela Ștefănescu, Author

Defining a future development pathway through the lens of sustainability and competitiveness is a unique trademark of any free market. Going beyond this aspect, this book is an invitation to identify relevant correlations between the circular economy

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Behavioral, social and school functioning in children with Pompe disease

Autor: Stephanie Austin, Mihaela Stefanescu, Gail A. Spiridigliozzi, Priya S. Kishnani, Aditi Korlimarla

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100635-(2020)

Purpose To improve our understanding of the behavioral, social, and emotional functioning of children and adolescents with Pompe disease. Method Parents/guardians of 21 children (age 5-18y) with infantile (IPD) or late-onset (LOPD) Pompe disease on l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa1a5920192427068851966a4f6c29ec
https://doi.org/10.1016/j.ymgmr.2020.100635

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