Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases
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- NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model , Journal of Inherited Metabolic Disease, 47, 2, (230-243), (2023).https://doi.org/10.1002/jimd.12693
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits, Pharmacology & Therapeutics, 222, (107785), (2021).https://doi.org/10.1016/j.pharmthera.2020.107785
- Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease), Scientific Reports, 8, 1, (2018).https://doi.org/10.1038/s41598-018-33449-0
- A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease, Pediatric Neurology, 74, (87-91.e2), (2017).https://doi.org/10.1016/j.pediatrneurol.2017.05.022
- Aspartic Acid ☆, Reference Module in Biomedical Sciences, (2017).https://doi.org/10.1016/B978-0-12-801238-3.97338-0
- Alteration of phospholipids in the blood of patients with Duchenne muscular dystrophy (DMD): in vitro, high resolution 31P NMR-based study, Acta Neurologica Belgica, 116, 4, (573-581), (2016).https://doi.org/10.1007/s13760-016-0607-4
- Diagnostic Procedures, Inborn Metabolic Diseases, (91-107), (2016).https://doi.org/10.1007/978-3-662-49771-5_3
- Childhood leukodystrophies: a clinical perspective, Expert Review of Neurotherapeutics, 11, 10, (1485-1496), (2014).https://doi.org/10.1586/ern.11.135
- Vesicular uptake of N -acetylaspartylglutamate is catalysed by sialin (SLC17A5) , Biochemical Journal, 454, 1, (31-38), (2013).https://doi.org/10.1042/BJ20130300
- Nuclear Magnetic Resonance of Cerebrospinal Fluid: The Neurometabolome, Methodologies for Metabolomics, (257-270), (2013).https://doi.org/10.1017/CBO9780511996634.016
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