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Heather Church

The University of Manchester - Manchester University NHS Foundation Trust

Oxford Road

Manchester, M13 9PL

United Kingdom

SCHOLARLY PAPERS

2

DOWNLOADS

139

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 96 (709,832)

Abstract:

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metachromatic leukodystrophy, newborn screening, mass spectrometry, sulfatide

2.

A Pre-Pilot Newborn Screening Study for Metachromatic Leukodystrophy Identified and Referred a Late Infantile Case for Treatment

Number of pages: 41 Posted: 04 Jan 2024
The University of Manchester - Manchester University NHS Foundation Trust, The University of Manchester - Manchester University NHS Foundation Trust, The University of Manchester - Manchester University NHS Foundation Trust, The University of Manchester - Manchester University NHS Foundation Trust, The University of Manchester - Manchester University NHS Foundation Trust, The University of Manchester - Manchester University NHS Foundation Trust, The University of Manchester - Manchester University NHS Foundation Trust, The University of Manchester - Manchester University NHS Foundation Trust, The University of Manchester - Manchester University NHS Foundation Trust, The University of Manchester, The University of Manchester - Manchester University NHS Foundation Trust, Leeds Teaching Hospitals NHS Trust, The University of Manchester and The University of Manchester - Manchester University NHS Foundation Trust
Downloads 43 (1,145,425)

Abstract:

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*Metachromatic leukodystrophy, newborn screening, dried bloodspot, pilot study, sulphatide, lysosomal storage disorder, sphingolipidosis