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Elisa Leão-Teles

Showing results (1-10 of 51) with videos related to

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Molecular Genetics and Metabolism|August 15, 2002
Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosisLuísa Azevedo, Laura Vilarinho, Elisa Leão Teles, et al.
Case Reports in Ophthalmology|October 30, 2024
Novel Fundoscopic Features in Mucopolysaccharidosis Type VI: Multimodal Evaluation of Scleral DepositsAugusto Magalhães, Margarida Ribeiro, Jorge Meira, et al.
Journal of Pediatric Rehabilitation Medicine|July 28, 2011
Radiologic and neuroradiologic findings in the mucopolysaccharidosesRalph Lachman, Kenneth W Martin, Sérgio Castro, et al.
JIMD Reports|March 6, 2023
Visual impairment in mucopolysaccharidosis VIAugusto Monteiro Magalhães, Ana Filipa Moleiro, Esmeralda Rodrigues, et al.
Cornea|March 13, 2025
Histopathological and Clinical-Genetic Analysis of Corneal Specimens in Maroteaux-Lamy SyndromeAna Faria Pereira, Sofia Pedrosa, Raúl Moreira, et al.
Virchows Archiv : an International Journal of Pathology|September 3, 2008
Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry diseaseJoão Paulo Oliveira, Carmen Valbuena, António Baldaia Moreira, et al.
Human Molecular Genetics|June 5, 2009
Golgi function and dysfunction in the first COG4-deficient CDG type II patientEllen Reynders, François Foulquier, Elisa Leão Teles, et al.
Case Reports in Ophthalmology|November 1, 2021
Increased Choroidal Thickness in Morquio SyndromeAugusto Magalhães, Rodrigo Vilares-Morgado, Ana Maria Cunha, et al.
Molecular Genetics and Metabolism|July 21, 2019
Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance ProgramChristina Lampe, Paul R Harmatz, Rossella Parini, et al.
Molecular Genetics and Metabolism|May 17, 2025
Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-upBarbara K Burton, Paul R Harmatz, Veronika Horvathova, et al.
Pageof 6

Showing results (1-10 of 51) with videos related to

Sort By:
Pageof 6
Molecular Genetics and Metabolism|August 15, 2002
Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosisLuísa Azevedo, Laura Vilarinho, Elisa Leão Teles, et al.
Case Reports in Ophthalmology|October 30, 2024
Novel Fundoscopic Features in Mucopolysaccharidosis Type VI: Multimodal Evaluation of Scleral DepositsAugusto Magalhães, Margarida Ribeiro, Jorge Meira, et al.
Journal of Pediatric Rehabilitation Medicine|July 28, 2011
Radiologic and neuroradiologic findings in the mucopolysaccharidosesRalph Lachman, Kenneth W Martin, Sérgio Castro, et al.
JIMD Reports|March 6, 2023
Visual impairment in mucopolysaccharidosis VIAugusto Monteiro Magalhães, Ana Filipa Moleiro, Esmeralda Rodrigues, et al.
Cornea|March 13, 2025
Histopathological and Clinical-Genetic Analysis of Corneal Specimens in Maroteaux-Lamy SyndromeAna Faria Pereira, Sofia Pedrosa, Raúl Moreira, et al.
Virchows Archiv : an International Journal of Pathology|September 3, 2008
Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry diseaseJoão Paulo Oliveira, Carmen Valbuena, António Baldaia Moreira, et al.
Human Molecular Genetics|June 5, 2009
Golgi function and dysfunction in the first COG4-deficient CDG type II patientEllen Reynders, François Foulquier, Elisa Leão Teles, et al.
Case Reports in Ophthalmology|November 1, 2021
Increased Choroidal Thickness in Morquio SyndromeAugusto Magalhães, Rodrigo Vilares-Morgado, Ana Maria Cunha, et al.
Molecular Genetics and Metabolism|July 21, 2019
Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance ProgramChristina Lampe, Paul R Harmatz, Rossella Parini, et al.
Molecular Genetics and Metabolism|May 17, 2025
Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-upBarbara K Burton, Paul R Harmatz, Veronika Horvathova, et al.
Pageof 6