Long term outcome and clinical experience on immune tolerance induction therapies in infantile Pompe disease

por Austin, Stephanie, Kishnani, Priya
Publicado 2013

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV

por Yi, Haiqing, Gao, Fengqin, Austin, Stephanie, Kishnani, Priya S, Sun, Baodong
Publicado 2016

Employee human resource management values: validation of a new concept and scale

por Drouin-Rousseau, Sophie, Fernet, Claude, Austin, Stéphanie, Fabi, Bruno, Morin, Alexandre J. S.
Publicado 2023

Psychological need satisfaction across work and personal life: an empirical test of a comprehensive typology

por Fernet, Claude, Morin, Alexandre J. S., Mueller, Marcus B., Gillet, Nicolas, Austin, Stéphanie
Publicado 2023

Behavioral, social and school functioning in children with Pompe disease

por Korlimarla, Aditi, Spiridigliozzi, Gail A., Stefanescu, Mihaela, Austin, Stephanie L., Kishnani, Priya S.
Publicado 2020

"Bull’s eye” appearance of hepatocellular adenomas in patients with glycogen storage disease type I — atypical magnetic resonance imaging findings: Two case reports

por Vernuccio, Federica, Austin, Stephanie, Meyer, Mathias, Guy, Cynthia D, Kishnani, Priya S, Marin, Daniele
Publicado 2021

Public Health Adaptation to Climate Change in Canadian Jurisdictions

por Austin, Stephanie E., Ford, James D., Berrang-Ford, Lea, Araos, Malcolm, Parker, Stephen, Fleury, Manon D.
Publicado 2015

Small-Fiber Neuropathy in Pompe Disease: First Reported Cases and Prospective Screening of a Clinic Cohort

por Hobson-Webb, Lisa D., Austin, Stephanie L., Jain, Sneha, Case, Laura E., Greene, Karla, Kishnani, Priya S.
Publicado 2015

Public Health Adaptation to Climate Change in OECD Countries

por Austin, Stephanie E., Biesbroek, Robbert, Berrang-Ford, Lea, Ford, James D., Parker, Stephen, Fleury, Manon D.
Publicado 2016

Diurnal variability of glucose tetrasaccharide (Glc(4)) excretion in patients with glycogen storage disease type III

por Young, Sarah P., Khan, Aleena, Stefanescu, Ela, Seifts, Andrea M., Hijazi, Ghada, Austin, Stephanie, Kishnani, Priya S.
Publicado 2020

Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

por El-Gharbawy, Areeg, Tolun, Adviye A., Halaby, Carine A., Austin, Stephanie L., Kishnani, Priya S., Bali, Deeksha S.
Publicado 2022

Characterization of a canine model of glycogen storage disease type IIIa

por Yi, Haiqing, Thurberg, Beth L., Curtis, Sarah, Austin, Stephanie, Fyfe, John, Koeberl, Dwight D., Kishnani, Priya S., Sun, Baodong
Publicado 2012

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

por Fernandes, Samuela A., Khan, Aleena A., Boggs, Tracy, Bowling, Michael, Austin, Stephanie, Stefanescu, Mihaela, Case, Laura, Kishnani, Priya S.
Publicado 2020

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 study

por Marsden, Helen, Morgan, Caroline, Austin, Stephanie, DeGiovanni, Claudia, Venzi, Marcello, Kemos, Polychronis, Greenhalgh, Jack, Mullarkey, Dan, Palamaras, Ioulios
Publicado 2023

Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severity

por Harfouche, Melodi, Kishnani, Priya S., Krusinska, Eva, Gault, Jamie, Sitaraman, Sheela, Sowinski, Amanda, Katz, Irina, Austin, Stephanie, Goldstein, Margi, Mulberg, Andrew E.
Publicado 2020

Pregnancy Outcomes in Late Onset Pompe Disease

por Goker-Alpan, Ozlem, Kasturi, Vellore G., Sohi, Maninder K., Limgala, Renuka P., Austin, Stephanie L., Jennelle, Tabitha, Banikazemi, Maryam, Kishnani, Priya S.
Publicado 2020

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

por Feeney, Erin J, Austin, Stephanie, Chien, Yin-Hsiu, Mandel, Hanna, Schoser, Benedikt, Prater, Sean, Hwu, Wuh-Liang, Ralston, Evelyn, Kishnani, Priya S, Raben, Nina
Publicado 2014

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III

por Hijazi, Ghada, Paschall, Anna, Young, Sarah P., Smith, Brian, Case, Laura E., Boggs, Tracy, Amarasekara, Sathya, Austin, Stephanie L., Pendyal, Surekha, El-Gharbawy, Areeg, Deak, Kristen L., Muir, Andrew J., Kishnani, Priya S.
Publicado 2021

Tumour-infiltrating regulatory T cell density before neoadjuvant chemoradiotherapy for rectal cancer does not predict treatment response

por McCoy, Melanie J., Hemmings, Chris, Anyaegbu, Chidozie C., Austin, Stephanie J., Lee-Pullen, Tracey F., Miller, Timothy J., Bulsara, Max K., Zeps, Nikolajs, Nowak, Anna K., Lake, Richard A., Platell, Cameron F.
Publicado 2017

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

por Lévesque, Sébastien, Auray-Blais, Christiane, Gravel, Elaine, Boutin, Michel, Dempsey-Nunez, Laura, Jacques, Pierre-Etienne, Chenier, Sébastien, Larue, Sandrine, Rioux, Marie-France, Al-Hertani, Walla, Nadeau, Amelie, Mathieu, Jean, Maranda, Bruno, Désilets, Valérie, Waters, Paula J., Keutzer, Joan, Austin, Stephanie, Kishnani, Priya
Publicado 2016