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P Burlina

Showing results (71-80 of 93) with videos related to

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Gene|January 17, 2015
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) geneE Viggiano, A Marabotti, A P Burlina, et al.
Genetics in Medicine Open|May 13, 2026
Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screeningAlessandro P Burlina, Vincenza Gragnaniello, Chiara Edini, et al.
European Journal of Pediatrics|May 20, 1999
N-acetylaspartylglutamate in Canavan disease: an adverse effector?A P Burlina, V Ferrari, P Divry, et al.
International Journal of Neonatal Screening|January 22, 2024
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast ItalyVincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, et al.
International Journal of Neonatal Screening|February 21, 2025
Newborn Screening for Gaucher Disease: Parental Stress and Psychological BurdenChiara Cazzorla, Vincenza Gragnaniello, Giacomo Gaiga, et al.
Molecular Genetics and Metabolism|February 19, 2013
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiencyMonica Del Rizzo, Alessandro P Burlina, Jörn Oliver Sass, et al.
Clinical Chemistry and Laboratory Medicine|May 16, 2019
Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative studyGiulia Polo, Alessandro P Burlina, Enzo Ranieri, et al.
Biomolecules|July 2, 2021
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of ExperienceVincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, et al.
Neurology|December 21, 2007
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like diseaseM Henneke, P Combes, S Diekmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2010
Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry RegistryTorquil Watt, Alessandro P Burlina, Chiara Cazzorla, et al.
Pageof 10

Showing results (71-80 of 93) with videos related to

Sort By:
Pageof 10
Gene|January 17, 2015
Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) geneE Viggiano, A Marabotti, A P Burlina, et al.
Genetics in Medicine Open|May 13, 2026
Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screeningAlessandro P Burlina, Vincenza Gragnaniello, Chiara Edini, et al.
European Journal of Pediatrics|May 20, 1999
N-acetylaspartylglutamate in Canavan disease: an adverse effector?A P Burlina, V Ferrari, P Divry, et al.
International Journal of Neonatal Screening|January 22, 2024
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast ItalyVincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, et al.
International Journal of Neonatal Screening|February 21, 2025
Newborn Screening for Gaucher Disease: Parental Stress and Psychological BurdenChiara Cazzorla, Vincenza Gragnaniello, Giacomo Gaiga, et al.
Molecular Genetics and Metabolism|February 19, 2013
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiencyMonica Del Rizzo, Alessandro P Burlina, Jörn Oliver Sass, et al.
Clinical Chemistry and Laboratory Medicine|May 16, 2019
Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative studyGiulia Polo, Alessandro P Burlina, Enzo Ranieri, et al.
Biomolecules|July 2, 2021
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of ExperienceVincenza Gragnaniello, Alessandro P Burlina, Giulia Polo, et al.
Neurology|December 21, 2007
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like diseaseM Henneke, P Combes, S Diekmann, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2010
Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry RegistryTorquil Watt, Alessandro P Burlina, Chiara Cazzorla, et al.
Pageof 10