Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Stephanie L Austin

Showing results (1-10 of 25) with videos related to

Pageof 3
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2020
Response to Heiner-Fokkema et alSarah P Young, Aleena A Khan, Stephanie L Austin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2010
The electrodiagnostic characteristics of Glycogen Storage Disease Type IIILisa D Hobson-Webb, Stephanie L Austin, Deeksha S Bali, et al.
Molecular Genetics and Metabolism Reports|August 15, 2020
Behavioral, social and school functioning in children with Pompe diseaseAditi Korlimarla, Gail A Spiridigliozzi, Mihaela Stefanescu, et al.
Molecular Genetics and Metabolism|September 16, 2015
Characterization of gait in late onset Pompe diseasePaul T McIntosh, Laura E Case, Justin M Chan, et al.
Molecular Genetics and Metabolism|January 12, 2010
Hypovitaminosis D in glycogen storage disease type ISuhrad G Banugaria, Stephanie L Austin, Anne Boney, et al.
Obstetrics and Gynecology|November 9, 2013
Menorrhagia in patients with type I glycogen storage diseaseStephanie L Austin, Areeg H El-Gharbawy, Vellore G Kasturi, et al.
Molecular Genetics and Metabolism|October 4, 2016
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutationStephanie L Austin, Andrew Chiou, Baodong Sun, et al.
Molecular Genetics and Metabolism|January 19, 2019
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variantMrudu Herbert, Laura E Case, Mugdha Rairikar, et al.
The American Journal of Case Reports|April 4, 2015
Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohortLisa D Hobson-Webb, Stephanie L Austin, Sneha Jain, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?Areeg El-Gharbawy, Adviye A Tolun, Carine A Halaby, et al.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2020
Response to Heiner-Fokkema et alSarah P Young, Aleena A Khan, Stephanie L Austin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2010
The electrodiagnostic characteristics of Glycogen Storage Disease Type IIILisa D Hobson-Webb, Stephanie L Austin, Deeksha S Bali, et al.
Molecular Genetics and Metabolism Reports|August 15, 2020
Behavioral, social and school functioning in children with Pompe diseaseAditi Korlimarla, Gail A Spiridigliozzi, Mihaela Stefanescu, et al.
Molecular Genetics and Metabolism|September 16, 2015
Characterization of gait in late onset Pompe diseasePaul T McIntosh, Laura E Case, Justin M Chan, et al.
Molecular Genetics and Metabolism|January 12, 2010
Hypovitaminosis D in glycogen storage disease type ISuhrad G Banugaria, Stephanie L Austin, Anne Boney, et al.
Obstetrics and Gynecology|November 9, 2013
Menorrhagia in patients with type I glycogen storage diseaseStephanie L Austin, Areeg H El-Gharbawy, Vellore G Kasturi, et al.
Molecular Genetics and Metabolism|October 4, 2016
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutationStephanie L Austin, Andrew Chiou, Baodong Sun, et al.
Molecular Genetics and Metabolism|January 19, 2019
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variantMrudu Herbert, Laura E Case, Mugdha Rairikar, et al.
The American Journal of Case Reports|April 4, 2015
Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohortLisa D Hobson-Webb, Stephanie L Austin, Sneha Jain, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?Areeg El-Gharbawy, Adviye A Tolun, Carine A Halaby, et al.
Pageof 3