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Francyne Kubaski

Greenwood Genetic Center

SCHOLARLY PAPERS

2

DOWNLOADS

174

TOTAL CITATIONS

0

Scholarly Papers (2)

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 100 (709,832)

Abstract:

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metachromatic leukodystrophy, newborn screening, mass spectrometry, sulfatide

2.

Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Various Mucopolysaccharidoses and GM1 Gangliosidosis

Number of pages: 32 Posted: 21 Feb 2023
University of Washington, National MPS Society, National MPS Society, Cure GM1 Foundation, University of Washington, Greenwood Genetic Center, Federal University of Rio Grande do Sul (UFRGS/PPGA), SA Pathology - Genetics and Molecular Pathology and University of Washington
Downloads 74 (860,052)

Abstract:

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newborn screening, glycosaminoglycans, mucopolysaccharidosis, GM1 gangliosidosis, mass spectrometry, biochemical genetics