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Adult-onset methylenetetrahydrofolate reductase deficiency
Severe hyperhomocysteinemia (>100 µmol/L) is often associated with inborn errors of homocysteine metabolism. It manifests typically in neonatal period with developmental delay, hypotonia, feeding problems or failure to thrive. Adult-onset forms are rare and include less severe manifestations. Ear...
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| Publicado no: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7066602/ https://ncbi.nlm.nih.gov/pubmed/32161077 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-232241 |
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