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

Elisabetta Pasquini

Showing results (11-20 of 33) with videos related to

Pageof 4
Sort By:
Rapid Communications in Mass Spectrometry : RCM|February 19, 2008
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programsGiancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, et al.
Plos One|July 15, 2015
Genetic Contributions to the Development of Complications in Preterm NewbornsChiara Poggi, Betti Giusti, Elena Gozzini, et al.
Journal of Inherited Metabolic Disease|March 13, 2015
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelinesMartina Huemer, Viktor Kožich, Piero Rinaldo, et al.
Journal of Inherited Metabolic Disease|August 15, 2006
Barth syndrome presenting with acute metabolic decompensation in the neonatal periodMaria Alice Donati, Sabrina Malvagia, Elisabetta Pasquini, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 22, 2015
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first childRodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
JIMD Reports|February 23, 2013
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is EssentialGiancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, et al.
International Journal of Cardiology|November 29, 2018
Clinical profile and outcome of cardiac involvement in MELAS syndromeAlice Brambilla, Silvia Favilli, Iacopo Olivotto, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 30, 2008
Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spotsNicoletta Gasparotto, Rosella Tomanin, Anna Chiara Frigo, et al.
Acta Ophthalmologica|May 9, 2017
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patientsGiacomo M Bacci, Maria A Donati, Elisabetta Pasquini, et al.
International Journal of Molecular Sciences|January 25, 2018
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the LiteratureCatia Cavicchi, Chiara Chilleri, Antonella Fioravanti, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Rapid Communications in Mass Spectrometry : RCM|February 19, 2008
The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programsGiancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, et al.
Plos One|July 15, 2015
Genetic Contributions to the Development of Complications in Preterm NewbornsChiara Poggi, Betti Giusti, Elena Gozzini, et al.
Journal of Inherited Metabolic Disease|March 13, 2015
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelinesMartina Huemer, Viktor Kožich, Piero Rinaldo, et al.
Journal of Inherited Metabolic Disease|August 15, 2006
Barth syndrome presenting with acute metabolic decompensation in the neonatal periodMaria Alice Donati, Sabrina Malvagia, Elisabetta Pasquini, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 22, 2015
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first childRodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
JIMD Reports|February 23, 2013
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is EssentialGiancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, et al.
International Journal of Cardiology|November 29, 2018
Clinical profile and outcome of cardiac involvement in MELAS syndromeAlice Brambilla, Silvia Favilli, Iacopo Olivotto, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 30, 2008
Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spotsNicoletta Gasparotto, Rosella Tomanin, Anna Chiara Frigo, et al.
Acta Ophthalmologica|May 9, 2017
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patientsGiacomo M Bacci, Maria A Donati, Elisabetta Pasquini, et al.
International Journal of Molecular Sciences|January 25, 2018
Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the LiteratureCatia Cavicchi, Chiara Chilleri, Antonella Fioravanti, et al.
Pageof 4