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

Catharina Whybra

Showing results (11-20 of 26) with videos related to

Pageof 3
Sort By:
Genetica|February 19, 2008
Genetic polymorphisms of vitamin D receptor (VDR) in Fabry diseaseMichael Teitcher, Sarah Weinerman, Catharina Whybra, et al.
Orphanet Journal of Rare Diseases|November 10, 2012
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literatureCatharina Whybra, Eugen Mengel, Alexandra Russo, et al.
European Journal of Pediatrics|September 25, 2003
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescentsMarkus Ries, Uma Ramaswami, Rossella Parini, et al.
Reproductive Sciences (Thousand Oaks, Calif.)|March 29, 2023
The Cardiovascular Profile Score in Patients with Non-immune Hydrops Fetalis and Cardiac Anomalies - a Pilot StudyAnna Dionysopoulou, Etienne Pirih, Doris Macchiella, et al.
Journal of the American College of Cardiology|November 13, 2002
Cardiac manifestations of Anderson-Fabry disease in heterozygous femalesChristoph Kampmann, Frank Baehner, Catharina Whybra, et al.
Pediatric Nephrology (Berlin, Germany)|July 14, 2006
IgA nephropathy in two adolescent sisters heterozygous for Fabry diseaseCatharina Whybra, Andreas Schwarting, Jörg Kriegsmann, et al.
Acta Paediatrica (Oslo, Norway : 1992)|February 28, 2006
Clinical manifestations of Fabry disease in children: data from the Fabry Outcome SurveyUma Ramaswami, Catharina Whybra, Rosella Parini, et al.
Journal of Inherited Metabolic Disease|September 25, 2013
Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapyChristoph Kampmann, Christina Lampe, Catharina Whybra-Trümpler, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|May 25, 2006
Disease manifestations and X inactivation in heterozygous females with Fabry diseaseEsther M Maier, Stephanie Osterrieder, Catharina Whybra, et al.
Journal of Clinical Pharmacology|August 19, 2007
Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescentsMarkus Ries, Joe T Clarke, Catharina Whybra, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Genetica|February 19, 2008
Genetic polymorphisms of vitamin D receptor (VDR) in Fabry diseaseMichael Teitcher, Sarah Weinerman, Catharina Whybra, et al.
Orphanet Journal of Rare Diseases|November 10, 2012
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literatureCatharina Whybra, Eugen Mengel, Alexandra Russo, et al.
European Journal of Pediatrics|September 25, 2003
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescentsMarkus Ries, Uma Ramaswami, Rossella Parini, et al.
Reproductive Sciences (Thousand Oaks, Calif.)|March 29, 2023
The Cardiovascular Profile Score in Patients with Non-immune Hydrops Fetalis and Cardiac Anomalies - a Pilot StudyAnna Dionysopoulou, Etienne Pirih, Doris Macchiella, et al.
Journal of the American College of Cardiology|November 13, 2002
Cardiac manifestations of Anderson-Fabry disease in heterozygous femalesChristoph Kampmann, Frank Baehner, Catharina Whybra, et al.
Pediatric Nephrology (Berlin, Germany)|July 14, 2006
IgA nephropathy in two adolescent sisters heterozygous for Fabry diseaseCatharina Whybra, Andreas Schwarting, Jörg Kriegsmann, et al.
Acta Paediatrica (Oslo, Norway : 1992)|February 28, 2006
Clinical manifestations of Fabry disease in children: data from the Fabry Outcome SurveyUma Ramaswami, Catharina Whybra, Rosella Parini, et al.
Journal of Inherited Metabolic Disease|September 25, 2013
Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapyChristoph Kampmann, Christina Lampe, Catharina Whybra-Trümpler, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|May 25, 2006
Disease manifestations and X inactivation in heterozygous females with Fabry diseaseEsther M Maier, Stephanie Osterrieder, Catharina Whybra, et al.
Journal of Clinical Pharmacology|August 19, 2007
Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescentsMarkus Ries, Joe T Clarke, Catharina Whybra, et al.
Pageof 3