Rapid LC-MS/MS Method for Targeted Assay of Creatine Deficiency Syndromes in Morocco
<b>Background:</b> Creatine deficiency syndromes (CDS) are rare neurometabolic disorders caused by defects in creatine biosynthesis (AGAT and GAMT deficiencies) or creatine transport (SLC6A8 deficiency). Early biochemical recognition is crucial for timely treatment of AGAT and GAMT deficiencies and...
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| Principais autores: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI AG
2026-06-01
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| Colecção: | Metabolites |
| Assuntos: | |
| Acesso em linha: | https://www.mdpi.com/2218-1989/16/6/388 |
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