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Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 979, doi. 10.3390/ijms21030979
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- Article
Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.
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- British Journal of Haematology, 2021, v. 193, n. 6, p. 1185, doi. 10.1111/bjh.17524
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- Article
MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1247, doi. 10.1007/s00439-019-02063-z
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- Article
Inborn disorders of the malate aspartate shuttle.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 792, doi. 10.1002/jimd.12402
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- Article
Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome.
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- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad223
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- Article