The value of simultaneous determination of blood large neutral amino acids and tetrahydrobiopterin metabolites in the diagnosis of atypical hyperphenylalaninemia
Abstract Tetrahydrobiopterin deficiency in newborns with atypical hyperphenylalaninemia requires rapid and accurate diagnosis and the ability to distinguish it from the classical type to prevent early irreversible neurological damage. The study aimed to evaluate neopterin and biopterin (products of...
| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
SpringerOpen
2024-01-01
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| Colecção: | Egyptian Liver Journal |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s43066-024-00312-z |