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

G Pintos-Morell

Showing results (11-20 of 22) with videos related to

Pageof 3
Sort By:
Acta Paediatrica (Oslo, Norway : 1992)|March 1, 1993
Trichorhinophalangeal syndrome, type I, with avascular necrosis of the femoral headI Minguella, M Ubierna, J Escola, et al.
Clinical Genetics|April 5, 2011
Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome SurveyU Ramaswami, R Parini, G Pintos-Morell, et al.
Revista De Neurologia|October 21, 1999
[Diagnostic strategy for mitochondrial diseases]A Galán-Ortega, J Coll-Cantí, A Padrós-Fluvià, et al.
European Journal of Medical Genetics|December 2, 2008
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutationB Friguls, W Coroleu, R del Alcazar, et al.
European Journal of Pediatrics|June 1, 1993
Anti-neutrophil cytoplasmic auto-antibodies-associated vasculitis with pulmonary and renal involvementG Pintos-Morell, A Roca-Comas, M A Naranjo, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|April 13, 2011
[Sotos syndrome: a novel nonsense mutation in NSD1 gene, presenting with neonatal cutis laxa]E Cortès-Saladelafont, K Arias-Sáez, D Esteban-Oliva, et al.
Acta Paediatrica (Oslo, Norway : 1992)|December 26, 2006
Enzyme replacement therapy with agalsidase alfa in children with Fabry diseaseU Ramaswami, S Wendt, G Pintos-Morell, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Molybdenum cofactor deficiency associated with Dandy-Walker malformationG Pintos-Morell, M A Naranjo, M Artigas, et al.
Anales Espanoles De Pediatria|July 1, 1996
[Neonatal hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria]M Rogé Canales, C Rodrigo Gonzalo de Liria, L J Prats Viñas, et al.
European Journal of Medical Genetics|August 17, 2010
First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS)C Alcalde-Martín, J M Muro-Tudelilla, R Cancho-Candela, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Acta Paediatrica (Oslo, Norway : 1992)|March 1, 1993
Trichorhinophalangeal syndrome, type I, with avascular necrosis of the femoral headI Minguella, M Ubierna, J Escola, et al.
Clinical Genetics|April 5, 2011
Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome SurveyU Ramaswami, R Parini, G Pintos-Morell, et al.
Revista De Neurologia|October 21, 1999
[Diagnostic strategy for mitochondrial diseases]A Galán-Ortega, J Coll-Cantí, A Padrós-Fluvià, et al.
European Journal of Medical Genetics|December 2, 2008
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutationB Friguls, W Coroleu, R del Alcazar, et al.
European Journal of Pediatrics|June 1, 1993
Anti-neutrophil cytoplasmic auto-antibodies-associated vasculitis with pulmonary and renal involvementG Pintos-Morell, A Roca-Comas, M A Naranjo, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|April 13, 2011
[Sotos syndrome: a novel nonsense mutation in NSD1 gene, presenting with neonatal cutis laxa]E Cortès-Saladelafont, K Arias-Sáez, D Esteban-Oliva, et al.
Acta Paediatrica (Oslo, Norway : 1992)|December 26, 2006
Enzyme replacement therapy with agalsidase alfa in children with Fabry diseaseU Ramaswami, S Wendt, G Pintos-Morell, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Molybdenum cofactor deficiency associated with Dandy-Walker malformationG Pintos-Morell, M A Naranjo, M Artigas, et al.
Anales Espanoles De Pediatria|July 1, 1996
[Neonatal hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria]M Rogé Canales, C Rodrigo Gonzalo de Liria, L J Prats Viñas, et al.
European Journal of Medical Genetics|August 17, 2010
First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS)C Alcalde-Martín, J M Muro-Tudelilla, R Cancho-Candela, et al.
Pageof 3