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Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency
BACKGROUND: Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disorder and susceptible to supplementary Cr treatmen...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5289057/ https://ncbi.nlm.nih.gov/pubmed/28148286 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0577-5 |
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