Joseph J. Orsini

Newborn Screening for Krabbe Disease: the New York State Model

Patricia K. Duffner, Michele Caggana, Joseph J. Orsini et al. · Pediatric Neurology · 2009 · 187 citations

Medicine, Pediatrics, Preventive Medicine +16

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants

Melissa Wasserstein, Michele Caggana, Sean M. Bailey et al. · Genetics in Medicine · 2018 · 166 citations · Full text

Medicine, Child Health, Pediatrics +16

Development and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders

Víctor R. De Jesús, X. Kate Zhang, Joan Keutzer et al. · Clinical Chemistry · 2008 · 133 citations · Full text

Life Sciences, Biochemistry, Analytical Chemistry +16

Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

Beth Vogel, Sue Bradley, Darius J. Adams et al. · Molecular Genetics and Metabolism · 2015 · 123 citations

Medicine, Endocrinology, Pediatrics +16

Development of a bile acid–based newborn screen for Niemann-Pick disease type C

Xuntian Jiang, Rohini Sidhu, Laurel Mydock‐McGrane et al. · Science Translational Medicine · 2016 · 114 citations · Full text

Life Sciences, Biochemistry, Molecular Medicine +16