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Stephanie Austin

Showing results (21-30 of 34) with videos related to

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FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 21, 2014
Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe diseaseDwight D Koeberl, Stephanie Austin, Laura E Case, et al.
Journal of Patient-Reported Outcomes|October 9, 2020
Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severityMelodi Harfouche, Priya S Kishnani, Eva Krusinska, et al.
Molecular Genetics and Metabolism|January 16, 2013
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type IIIBaodong Sun, Keri Fredrickson, Stephanie Austin, et al.
Molecular Genetics and Metabolism|January 7, 2014
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 geneDeeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, et al.
Acta Neuropathologica Communications|January 4, 2014
The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patientsErin J Feeney, Stephanie Austin, Yin-Hsiu Chien, et al.
Molecular Genetics and Metabolism|February 11, 2017
The emerging phenotype of late-onset Pompe disease: A systematic literature reviewJustin Chan, Ankit K Desai, Zoheb B Kazi, et al.
Molecular Genetics and Metabolism|October 21, 2017
Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapyPaul T McIntosh, Lisa D Hobson-Webb, Zoheb B Kazi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoringCarine A Halaby, Sarah P Young, Stephanie Austin, et al.
Human Molecular Genetics|September 19, 2009
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage diseasePriya S Kishnani, Tzu-Po Chuang, Deeksha Bali, et al.
Journal of Gastroenterology|October 17, 2013
Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkersLi-Ya Chiu, Priya S Kishnani, Tzu-Po Chuang, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 21, 2014
Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe diseaseDwight D Koeberl, Stephanie Austin, Laura E Case, et al.
Journal of Patient-Reported Outcomes|October 9, 2020
Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severityMelodi Harfouche, Priya S Kishnani, Eva Krusinska, et al.
Molecular Genetics and Metabolism|January 16, 2013
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type IIIBaodong Sun, Keri Fredrickson, Stephanie Austin, et al.
Molecular Genetics and Metabolism|January 7, 2014
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 geneDeeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, et al.
Acta Neuropathologica Communications|January 4, 2014
The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patientsErin J Feeney, Stephanie Austin, Yin-Hsiu Chien, et al.
Molecular Genetics and Metabolism|February 11, 2017
The emerging phenotype of late-onset Pompe disease: A systematic literature reviewJustin Chan, Ankit K Desai, Zoheb B Kazi, et al.
Molecular Genetics and Metabolism|October 21, 2017
Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapyPaul T McIntosh, Lisa D Hobson-Webb, Zoheb B Kazi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2019
Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoringCarine A Halaby, Sarah P Young, Stephanie Austin, et al.
Human Molecular Genetics|September 19, 2009
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage diseasePriya S Kishnani, Tzu-Po Chuang, Deeksha Bali, et al.
Journal of Gastroenterology|October 17, 2013
Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkersLi-Ya Chiu, Priya S Kishnani, Tzu-Po Chuang, et al.
Pageof 4