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R Giugliani

Showing results (151-160 of 164) with videos related to

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Clinical Genetics|July 28, 1999
Infantile sialic acid storage disease: report of the first case in South AmericaC Y Utagawa, S M Sugayama, E M Ribeiro, et al.
Molecular Genetics and Metabolism|June 10, 2018
Universal newborn screening: A roadmap for actionC P Howson, B Cedergren, R Giugliani, et al.
Journal of Inherited Metabolic Disease|May 7, 2009
Galactosaemia in a Brazilian population: high incidence and cost-benefit analysisJ S Camelo, M I Machado Fernandes, L M Zanini Maciel, et al.
Molecular Genetics and Metabolism|June 25, 2019
Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177-183C P Howson, B Cedergren, R Giugliani, et al.
Molecular Genetics and Metabolism|March 13, 2012
Expert recommendations for the laboratory diagnosis of MPS VIT Wood, O A Bodamer, M G Burin, et al.
Clinical Genetics|August 2, 2006
Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findingsA Trott, L B Jardim, H T Ludwig, et al.
Pediatrics|November 11, 2009
Multidisciplinary management of Hunter syndromeJoseph Muenzer, M Beck, C M Eng, et al.
Journal of Inherited Metabolic Disease|June 7, 2012
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapyE Braunlin, H Rosenfeld, C Kampmann, et al.
Molecular Genetics and Metabolism|October 16, 2013
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patientsA C Brusius-Facchin, I V D Schwartz, C Zimmer, et al.
Clinical Genetics|August 25, 2004
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VIA C M M Azevedo, I V Schwartz, L Kalakun, et al.
Pageof 17

Showing results (151-160 of 164) with videos related to

Sort By:
Pageof 17
Clinical Genetics|July 28, 1999
Infantile sialic acid storage disease: report of the first case in South AmericaC Y Utagawa, S M Sugayama, E M Ribeiro, et al.
Molecular Genetics and Metabolism|June 10, 2018
Universal newborn screening: A roadmap for actionC P Howson, B Cedergren, R Giugliani, et al.
Journal of Inherited Metabolic Disease|May 7, 2009
Galactosaemia in a Brazilian population: high incidence and cost-benefit analysisJ S Camelo, M I Machado Fernandes, L M Zanini Maciel, et al.
Molecular Genetics and Metabolism|June 25, 2019
Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177-183C P Howson, B Cedergren, R Giugliani, et al.
Molecular Genetics and Metabolism|March 13, 2012
Expert recommendations for the laboratory diagnosis of MPS VIT Wood, O A Bodamer, M G Burin, et al.
Clinical Genetics|August 2, 2006
Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findingsA Trott, L B Jardim, H T Ludwig, et al.
Pediatrics|November 11, 2009
Multidisciplinary management of Hunter syndromeJoseph Muenzer, M Beck, C M Eng, et al.
Journal of Inherited Metabolic Disease|June 7, 2012
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapyE Braunlin, H Rosenfeld, C Kampmann, et al.
Molecular Genetics and Metabolism|October 16, 2013
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patientsA C Brusius-Facchin, I V D Schwartz, C Zimmer, et al.
Clinical Genetics|August 25, 2004
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VIA C M M Azevedo, I V Schwartz, L Kalakun, et al.
Pageof 17