Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature-Reference-Cited by-同舟云学术

Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature

Published:2022-05-04 Issue:4 Volume:63 Page:292-302
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Laugwitz Lucia¹²^ORCID,Santhanakumaran Vidiyaah²,Spieker Mareike²,Boehringer Judith²,Bender Benjamin³,Gieselmann Volkmar⁴,Beck‐Woedl Stefanie¹,Bruchelt Gernot²,Harzer Klaus²,Kraegeloh‐Mann Ingeborg²,Groeschel Samuel²

Affiliation:

1. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

2. Department of Neuropediatrics, Developmental Neurology and Social Paediatrics University of Tübingen Tübingen Germany

3. Diagnostic and Interventional Neuroradiology Radiologic Clinics, University of Tübingen Tübingen Germany

4. Institute of Biochemistry and Molecular Biology University of Bonn Bonn Germany

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12293

Reference51 articles.

1. Very low arylsulfatase a and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family;Dubois G;Am J Hum Genet,1977

2. Metachromatic leukodystrophy and arylsulphatase a: relations and discrepancies;Dubois G;Biomedicine,1977

3. Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy

4. Pseudo arylsulfatase A deficiency Biosynthesis of an abnormal arylsulfatase A

5. Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.

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