Found: 8
Select item for more details and to access through your institution.
β-Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine.
- Published in:
- Magnetic Resonance in Medicine, 2001, v. 46, n. 5, p. 1014, doi. 10.1002/mrm.1289
- By:
- Publication type:
- Article
Metabolomics biomarker discovery in cerebrospinal fluid for cerebral amyloid angiopathy: Biomarkers (non‐neuroimaging) / novel biomarkers.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.041934
- By:
- Publication type:
- Article
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 682, doi. 10.1002/jimd.12522
- By:
- Publication type:
- Article
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1113, doi. 10.1002/jimd.12385
- By:
- Publication type:
- Article
Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia.
- Published in:
- Movement Disorders, 2021, v. 36, n. 12, p. 2951, doi. 10.1002/mds.28788
- By:
- Publication type:
- Article
Variable Selection in Untargeted Metabolomics and the Danger of Sparsity.
- Published in:
- Metabolites (2218-1989), 2020, v. 10, n. 11, p. 470, doi. 10.3390/metabo10110470
- By:
- Publication type:
- Article
Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase.
- Published in:
- Annals of Clinical Biochemistry, 2003, v. 40, n. 1, p. 102, doi. 10.1258/000456303321016259
- By:
- Publication type:
- Article
Decreased purine metabolite levels in cerebrospinal fluid of transgenic cerebral amyloid angiopathy rats.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.054334
- By:
- Publication type:
- Article