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Joseph J Orsini

Showing results (1-10 of 43) with videos related to

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Developmental Medicine and Child Neurology|May 24, 2019
Newborn screening for Krabbe disease: perceived and current ethical issuesJoseph J Orsini
International Journal of Neonatal Screening|November 26, 2020
The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe DiseaseMonica M Martin, Ryan Wilson, Michele Caggana, et al.
Journal of Neuroscience Research|September 18, 2016
Newborn screening for Krabbe's diseaseJoseph J Orsini, Carlos A Saavedra-Matiz, Michael H Gelb, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 17, 2010
Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testingJoseph J Orsini, John Yeman, Michele Caggana, et al.
Molecular Genetics and Metabolism|August 13, 2023
VUS: Variant of uncertain significance or very unclear situation?Stephan Kemp, Joseph J Orsini, Merel S Ebberink, et al.
Journal of Neuroscience Research|September 18, 2016
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's diseaseCarlos A Saavedra-Matiz, Paola Luzi, Matthew Nichols, et al.
International Journal of Neonatal Screening|June 2, 2021
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case ReportCamille S Corre, Dietrich Matern, Joan E Pellegrino, et al.
Journal of Neuroscience Research|September 18, 2016
Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?Randy L Carter, Lawrence Wrabetz, Kabir Jalal, et al.
Neuroscience Letters|June 24, 2021
The future of newborn screening for lysosomal disordersMelissa P Wasserstein, Joseph J Orsini, Aaron Goldenberg, et al.
Pediatrics|July 27, 2022
Making Decisions About Krabbe Disease Newborn ScreeningJoanne Kurtzberg, Dietrich Matern, Joseph J Orsini, et al.
Pageof 5

Showing results (1-10 of 43) with videos related to

Sort By:
Pageof 5
Developmental Medicine and Child Neurology|May 24, 2019
Newborn screening for Krabbe disease: perceived and current ethical issuesJoseph J Orsini
International Journal of Neonatal Screening|November 26, 2020
The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe DiseaseMonica M Martin, Ryan Wilson, Michele Caggana, et al.
Journal of Neuroscience Research|September 18, 2016
Newborn screening for Krabbe's diseaseJoseph J Orsini, Carlos A Saavedra-Matiz, Michael H Gelb, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|March 17, 2010
Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testingJoseph J Orsini, John Yeman, Michele Caggana, et al.
Molecular Genetics and Metabolism|August 13, 2023
VUS: Variant of uncertain significance or very unclear situation?Stephan Kemp, Joseph J Orsini, Merel S Ebberink, et al.
Journal of Neuroscience Research|September 18, 2016
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's diseaseCarlos A Saavedra-Matiz, Paola Luzi, Matthew Nichols, et al.
International Journal of Neonatal Screening|June 2, 2021
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case ReportCamille S Corre, Dietrich Matern, Joan E Pellegrino, et al.
Journal of Neuroscience Research|September 18, 2016
Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?Randy L Carter, Lawrence Wrabetz, Kabir Jalal, et al.
Neuroscience Letters|June 24, 2021
The future of newborn screening for lysosomal disordersMelissa P Wasserstein, Joseph J Orsini, Aaron Goldenberg, et al.
Pediatrics|July 27, 2022
Making Decisions About Krabbe Disease Newborn ScreeningJoanne Kurtzberg, Dietrich Matern, Joseph J Orsini, et al.
Pageof 5