Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease-Reference-Cited by-同舟云学术

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Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease

Published:2024-06 Issue:2 Volume:142 Page:108489
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Posern Christian,Dreyer Benjamin,Maier Sarah L.,Eichler Florian,Gelb Michael H.,Santer René,Bley Annette,Murko Simona

Funder

National Chemical Laboratory

Bundesministerium für Bildung und Forschung

Publisher

Elsevier BV

Reference38 articles.

1. The natural history of Canavan disease: 23 new cases and comparison with patients from literature;Bley;Orphanet J. Rare Dis.,2021

2. Mutational analysis of aspartoacylase: implications for Canavan disease;Hershfield;Brain Res.,2007

3. Clinically distinct phenotypes of Canavan disease correlate with residual aspartoacylase enzyme activity;Mendes;Hum. Mutat.,2017

4. LC-MS/MS determination of N-acetylaspartic acid in dried blood spot for selective screening of Canavan disease;Jurdáková;Monatsh. Chem.,2019

5. N-acetylaspartate in the CNS: from neurodiagnostics to neurobiology;Moffett;Prog. Neurobiol.,2007

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