Advanced search
Publication Cover
Scandinavian Journal of Clinical and Laboratory Investigation Volume 53, 1993 - Issue sup213
Submit an article Journal homepage
11
Views
6
CrossRef citations to date
0
Altmetric
Original Article

Dissection of the molecular pathology of aspartylglucosammuria provides the basis for DNA diagnostics and future therapeutic interventions

Elina Ikonen Department of Human Molecular Genetics, National Public Health Institute, Mannerheimintie 166, Helsinki, Finland
,
Ann-Christine Syvänen Department of Human Molecular Genetics, National Public Health Institute, Mannerheimintie 166, Helsinki, Finland
&
Leena Peltonen Department of Human Molecular Genetics, National Public Health Institute, Mannerheimintie 166, Helsinki, Finland
Pages 19-27 | Published online: 08 Jul 2009

Citations (6)

Keep up to date with the latest research on this topic with citation updates for this article.

Subscribe to citation updates

Read on this site (1)

Ambritha Balasundaram, Sriroopreddy Ramireddy, Udhaya Kumar S.Thirumal Kumar D.Iftikhar Aslam Tayubi, Hatem Zayed & George Priya Doss C.. (2023) A new horizon in the phosphorylated sites of AGA: the structural impact of C163S mutation in aspartylglucosaminuria through molecular dynamics simulation. Journal of Biomolecular Structure and Dynamics 0:0, pages 1-12.
Read now

Articles from other publishers (5)

Antje Banning, Minna Laine & Ritva Tikkanen. (2023) Validation of Aspartylglucosaminidase Activity Assay for Human Serum Samples: Establishment of a Biomarker for Diagnostics and Clinical Studies. International Journal of Molecular Sciences 24:6, pages 5722.
Crossref
Antje Banning, Manuel Schiff & Ritva Tikkanen. (2018) Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1864:3, pages 668-675.
Crossref
Enid Gilbert-Barness, Thora S. Steffensen & Dennis R. Johnson. 2014. Forensic Pathology of Infancy and Childhood. Forensic Pathology of Infancy and Childhood 993 1057 .
Dominika Borek, Karolina Michalska, Krzysztof Brzezinski, Agnieszka Kisiel, Jan Podkowinski, David T. Bonthron, Daniel Krowarsch, Jacek Otlewski & Mariusz Jaskolski. (2004) Expression, purification and catalytic activity of Lupinus luteus asparagine β-amidohydrolase and its Escherichia coli homolog. European Journal of Biochemistry 271:15, pages 3215-3226.
Crossref
Nathan N AronsonJr.Jr.. (1999) Aspartylglycosaminuria: biochemistry and molecular biology. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1455:2-3, pages 139-154.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.