Diagnosis of Metachromatic Leukodystrophy by Immune Quantification of Arylsulphatase A Protein and Activity in Dried Blood Spots-Reference-Cited by-同舟云学术

Diagnosis of Metachromatic Leukodystrophy by Immune Quantification of Arylsulphatase A Protein and Activity in Dried Blood Spots

Published:2008-11-01 Issue:11 Volume:54 Page:1925-1927
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Tan Mohd A F¹²³,Dean Caroline J¹,Hopwood John J¹²,Meikle Peter J¹²⁴

Affiliation:

1. Lysosomal Diseases Research Unit Department of Genetic Medicine, Children Youth and Women’s Health Service, North Adelaide, South Australia, Australia

2. Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia

3. Department of Chemical Pathology, Universiti Sains Malaysia, Health Campus, Malaysia

4. Present address: Baker IDI Heart and Diabetes Institute, Melbourne, Victoria 3004, Australia

Funder

National Health and Medical Research Council

Publisher

Oxford University Press (OUP)

Subject

Biochemistry (medical),Clinical Biochemistry

Link

http://academic.oup.com/clinchem/article-pdf/54/11/1925/32673388/clinchem1925.pdf

Reference5 articles.

1. Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology

2. Determination of Acid α-Glucosidase Protein: Evaluation as a Screening Marker for Pompe Disease and Other Lysosomal Storage Disorders

3. Determination of Acid α-Glucosidase Activity in Blood Spots as a Diagnostic Test for Pompe Disease

4. Newborn screening for lysosomal storage disorders

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2. Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy;JIMD Reports;2022-01-19

3. Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots;Genetics in Medicine;2021-03

4. Lysosomal sulfatases: a growing family;Biochemical Journal;2020-10-29

5. Toward Reference Intervals of ARSA Activity in the Cerebrospinal Fluid: Implication for the Clinical Practice of Metachromatic Leukodystrophy;The Journal of Applied Laboratory Medicine;2020-09-10