default author photo

Joseph J. Orsini

New York State Department of Health

Albany, 12237

United States

SCHOLARLY PAPERS

3

DOWNLOADS

207

TOTAL CITATIONS

0

Scholarly Papers (3)

1.

Consensus Assay Methodology for Analysis of Sulfatides and Arylsulfatase a Enzymatic Activity in Dried Blood Spots for Newborn Screening of Metachromatic Leukodystrophy

Number of pages: 14 Posted: 04 Apr 2025
University of Washington, University of Washington, Illinois Department of Public Health, affiliation not provided to SSRN, affiliation not provided to SSRN, The University of Manchester - Manchester University NHS Foundation Trust, Illinois Department of Public Health, University of Washington - Department of Biochemistry, The University of Manchester - Manchester University NHS Foundation Trust, Illinois Department of Public Health, Greenwood Genetic Center, affiliation not provided to SSRN, New York State Department of Health, affiliation not provided to SSRN, The University of Manchester - Manchester University NHS Foundation Trust and University of Washington
Downloads 96 (709,832)

Abstract:

Loading...

metachromatic leukodystrophy, newborn screening, mass spectrometry, sulfatide

2.

Screenplus: A Comprehensive, Multi-Disorder Newborn Screening Program

Number of pages: 19 Posted: 22 Jun 2023
Yeshiva University - Albert Einstein College of Medicine, New York State Department of Health, Case Western Reserve University, Yeshiva University - Albert Einstein College of Medicine, Yeshiva University - Albert Einstein College of Medicine, Yeshiva University - Albert Einstein College of Medicine, Yeshiva University - Albert Einstein College of Medicine, New York State Department of Health, New York State Department of Health, New York State Department of Health, New York University (NYU), Mount Sinai Health System - Icahn School of Medicine, Mount Sinai Health System - Icahn School of Medicine, Maimonides Medical Center, New York University (NYU), Yeshiva University - Albert Einstein College of Medicine, Cohen Children’s Medical Center of New York, University of Washington and Yeshiva University - Albert Einstein College of Medicine
Downloads 62 (942,565)

Abstract:

Loading...

newborn screening, pilot studies, expanded conditions, ELSI, Ethics, research

3.

Newborn Screening for Krabbe Disease and Identification of Minority Patients

Number of pages: 9 Posted: 21 Oct 2023
University of Utah, Intermountain Healthcare, Intermountain Healthcare, University of Utah, Duke University - Marcus Center for Cellular Cures and New York State Department of Health
Downloads 49 (1,074,648)

Abstract:

Loading...

Krabbe disease, leukodystrophy, disparities, newborn screening