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

Ans van der Ploeg

Showing results (1-10 of 12) with videos related to

Pageof 2
Sort By:
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 19, 2012
The genotype-phenotype correlation in Pompe diseaseMarian Kroos, Marianne Hoogeveen-Westerveld, Ans van der Ploeg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2006
Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndromeR Rodney Howell, Barry Byrne, Basil T Darras, et al.
American Journal of Medical Genetics. Part A|August 17, 2013
Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)Marion Brands, Jorine Roelants, Ronald de Krijger, et al.
Human Mutation|May 31, 2012
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variantsMarian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, et al.
Molecular Genetics and Metabolism|March 29, 2011
Pompe disease: design, methodology, and early findings from the Pompe RegistryBarry J Byrne, Priya S Kishnani, Laura E Case, et al.
Pediatrics|July 4, 2007
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase)J Edmond Wraith, Michael Beck, Roderick Lane, et al.
Journal of Neurology|June 12, 2020
Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment startDavid W Stockton, Priya Kishnani, Ans van der Ploeg, et al.
Human Gene Therapy|February 6, 2015
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trialRita Ferla, Pamela Claudiani, Marco Savarese, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2018
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparisonJulie B Eisengart, Kyle D Rudser, Yong Xue, et al.
Pediatric Research|June 23, 2009
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe diseasePriya S Kishnani, Deya Corzo, Nancy D Leslie, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 19, 2012
The genotype-phenotype correlation in Pompe diseaseMarian Kroos, Marianne Hoogeveen-Westerveld, Ans van der Ploeg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2006
Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndromeR Rodney Howell, Barry Byrne, Basil T Darras, et al.
American Journal of Medical Genetics. Part A|August 17, 2013
Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)Marion Brands, Jorine Roelants, Ronald de Krijger, et al.
Human Mutation|May 31, 2012
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variantsMarian Kroos, Marianne Hoogeveen-Westerveld, Helen Michelakakis, et al.
Molecular Genetics and Metabolism|March 29, 2011
Pompe disease: design, methodology, and early findings from the Pompe RegistryBarry J Byrne, Priya S Kishnani, Laura E Case, et al.
Pediatrics|July 4, 2007
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase)J Edmond Wraith, Michael Beck, Roderick Lane, et al.
Journal of Neurology|June 12, 2020
Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment startDavid W Stockton, Priya Kishnani, Ans van der Ploeg, et al.
Human Gene Therapy|February 6, 2015
Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trialRita Ferla, Pamela Claudiani, Marco Savarese, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2018
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparisonJulie B Eisengart, Kyle D Rudser, Yong Xue, et al.
Pediatric Research|June 23, 2009
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe diseasePriya S Kishnani, Deya Corzo, Nancy D Leslie, et al.
Pageof 2