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Stephanie Austin

Showing results (11-20 of 34) with videos related to

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Journal of Inherited Metabolic Disease|November 12, 2019
Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measuresAleena A Khan, Tracy Boggs, Michael Bowling, et al.
JIMD Reports|March 17, 2021
Diurnal variability of glucose tetrasaccharide (Glc<sub>4</sub>) excretion in patients with glycogen storage disease type IIISarah P Young, Aleena Khan, Ela Stefanescu, et al.
Journal of Molecular Medicine (Berlin, Germany)|February 4, 2017
Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe diseaseHaiqing Yi, Tao Sun, Dustin Armstrong, et al.
JIMD Reports|March 12, 2017
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase DeficiencyDeeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, et al.
Frontiers in Medicine|October 23, 2023
Effectiveness of an image analyzing AI-based Digital Health Technology to identify Non-Melanoma Skin Cancer and other skin lesions: results of the DERM-003 studyHelen Marsden, Caroline Morgan, Stephanie Austin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 9, 2012
Characterization and pathogenesis of anemia in glycogen storage disease type Ia and IbDavid Q Wang, Caroline T Carreras, Laurie M Fiske, et al.
JIMD Reports|January 21, 2021
Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle diseaseSamuela A Fernandes, Aleena A Khan, Tracy Boggs, et al.
Disease Models & Mechanisms|June 28, 2012
Characterization of a canine model of glycogen storage disease type IIIaHaiqing Yi, Beth L Thurberg, Sarah Curtis, et al.
Muscle & Nerve|June 27, 2013
Generating color-coded anatomic muscle maps for correlation of quantitative magnetic resonance imaging analysis with clinical examination in neuromuscular disordersRamin Javan, Jeffrey J Horvath, Laura E Case, et al.
Molecular Genetics and Metabolism|October 15, 2021
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literatureAnna Paschall, Aleena A Khan, Syed Faaiz Enam, et al.
Pageof 4

Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
Journal of Inherited Metabolic Disease|November 12, 2019
Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measuresAleena A Khan, Tracy Boggs, Michael Bowling, et al.
JIMD Reports|March 17, 2021
Diurnal variability of glucose tetrasaccharide (Glc<sub>4</sub>) excretion in patients with glycogen storage disease type IIISarah P Young, Aleena Khan, Ela Stefanescu, et al.
Journal of Molecular Medicine (Berlin, Germany)|February 4, 2017
Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe diseaseHaiqing Yi, Tao Sun, Dustin Armstrong, et al.
JIMD Reports|March 12, 2017
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase DeficiencyDeeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, et al.
Frontiers in Medicine|October 23, 2023
Effectiveness of an image analyzing AI-based Digital Health Technology to identify Non-Melanoma Skin Cancer and other skin lesions: results of the DERM-003 studyHelen Marsden, Caroline Morgan, Stephanie Austin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 9, 2012
Characterization and pathogenesis of anemia in glycogen storage disease type Ia and IbDavid Q Wang, Caroline T Carreras, Laurie M Fiske, et al.
JIMD Reports|January 21, 2021
Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle diseaseSamuela A Fernandes, Aleena A Khan, Tracy Boggs, et al.
Disease Models & Mechanisms|June 28, 2012
Characterization of a canine model of glycogen storage disease type IIIaHaiqing Yi, Beth L Thurberg, Sarah Curtis, et al.
Muscle & Nerve|June 27, 2013
Generating color-coded anatomic muscle maps for correlation of quantitative magnetic resonance imaging analysis with clinical examination in neuromuscular disordersRamin Javan, Jeffrey J Horvath, Laura E Case, et al.
Molecular Genetics and Metabolism|October 15, 2021
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literatureAnna Paschall, Aleena A Khan, Syed Faaiz Enam, et al.
Pageof 4