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Heather A Lau

Showing results (1-10 of 8) with videos related to

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Movement Disorders Clinical Practice|March 7, 2019
Novel Nonsense Calmodulin-Binding Transcription Activator 1 Mutation Presenting as a Tremor-Predominant PhenotypeShashank Agarwal, Rebecca Gilbert, Heather A Lau
Radiology|June 3, 2015
Skeletal Muscle in Healthy Subjects versus Those with GNE-Related Myopathy: Evaluation with Shear-Wave US--A Pilot StudyElizabeth L Carpenter, Heather A Lau, Edwin H Kolodny, et al.
Journal of the Neurological Sciences|August 9, 2024
Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body diseaseGenevieve E Wilson, Deberah S Goldman, Harriet Saxe, et al.
Molecular Genetics and Metabolism|January 1, 2022
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensusPriya S Kishnani, Walla Al-Hertani, Manisha Balwani, et al.
Molecular Genetics and Metabolism|March 25, 2022
Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VIIHeather A Lau, David Viskochil, Pranoot Tanpaiboon, et al.
Orphanet Journal of Rare Diseases|December 21, 2021
A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithmJohn L Jefferies, Alison K Spencer, Heather A Lau, et al.
Molecular Genetics and Metabolism|October 7, 2014
Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trialChristian J Hendriksz, Roberto Giugliani, Paul Harmatz, et al.
Journal of Clinical Neuromuscular Disease|August 23, 2017
Characterization of Strength and Function in Ambulatory Adults With GNE MyopathyZohar Argov, Faye Bronstein, Alicia Esposito, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Movement Disorders Clinical Practice|March 7, 2019
Novel Nonsense Calmodulin-Binding Transcription Activator 1 Mutation Presenting as a Tremor-Predominant PhenotypeShashank Agarwal, Rebecca Gilbert, Heather A Lau
Radiology|June 3, 2015
Skeletal Muscle in Healthy Subjects versus Those with GNE-Related Myopathy: Evaluation with Shear-Wave US--A Pilot StudyElizabeth L Carpenter, Heather A Lau, Edwin H Kolodny, et al.
Journal of the Neurological Sciences|August 9, 2024
Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in adult polyglucosan body diseaseGenevieve E Wilson, Deberah S Goldman, Harriet Saxe, et al.
Molecular Genetics and Metabolism|January 1, 2022
Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensusPriya S Kishnani, Walla Al-Hertani, Manisha Balwani, et al.
Molecular Genetics and Metabolism|March 25, 2022
Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VIIHeather A Lau, David Viskochil, Pranoot Tanpaiboon, et al.
Orphanet Journal of Rare Diseases|December 21, 2021
A new approach to identifying patients with elevated risk for Fabry disease using a machine learning algorithmJohn L Jefferies, Alison K Spencer, Heather A Lau, et al.
Molecular Genetics and Metabolism|October 7, 2014
Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trialChristian J Hendriksz, Roberto Giugliani, Paul Harmatz, et al.
Journal of Clinical Neuromuscular Disease|August 23, 2017
Characterization of Strength and Function in Ambulatory Adults With GNE MyopathyZohar Argov, Faye Bronstein, Alicia Esposito, et al.
Pageof 1